P01112

SS
Gene name
HRAS (HRAS1)
Protein name
GTPase HRas
Names
EC 3.6.5.2 , H-Ras-1 , Ha-Ras , Transforming protein p21 , c-H-ras , p21ras [Cleaved into: GTPase HRas, N-terminally processed]
Species
Homo sapiens (Human)
KEGG Pathway
hsa:3265
EC number
3.6.5.2: Acting on GTP; involved in cellular and subcellular movement
Protein Class

Descriptions

Ras proteins are small GTPases that act as signal transducers between cell surface receptors and several intracellular signaling cascades. They contain highly homologous catalytic domains and flexible C-terminal hypervariable regions (HVRs) that differ across Ras isoforms. KRAS is among the most frequently mutated oncogenes in human tumors. The C-terminal HVR of K-Ras4B directly interacts with the active site of the protein. HVR binding interferes with Ras-Raf interaction, modulates binding to phospholipids, and slightly slows down nucleotide exchange.

Autoinhibitory domains (AIDs)

167-188 (C-terminal hypervariable region) SS

Target domain

1-166 (Catalytic domain)

Relief mechanism

Ligand binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

230 structures for P01112

Entry ID Method Resolution Chain Position Source
121P X-ray 154 A A 1-166 PDB
1AA9 NMR - A 1-171 PDB
1AGP X-ray 230 A A 1-166 PDB
1BKD X-ray 280 A R 1-166 PDB
1CLU X-ray 170 A A 1-166 PDB
1CRP NMR - A 1-166 PDB
1CRQ NMR - A 1-166 PDB
1CRR NMR - A 1-166 PDB
1CTQ X-ray 126 A A 1-166 PDB
1GNP X-ray 270 A A 1-166 PDB
1GNQ X-ray 250 A A 1-166 PDB
1GNR X-ray 185 A A 1-166 PDB
1HE8 X-ray 300 A B 1-166 PDB
1IAQ X-ray 290 A A/B/C 1-166 PDB
1IOZ X-ray 200 A A 1-171 PDB
1JAH X-ray 180 A A 1-166 PDB
1JAI X-ray 180 A A 1-166 PDB
1K8R X-ray 300 A A 1-166 PDB
1LF0 X-ray 170 A A 1-166 PDB
1LF5 X-ray 170 A A 1-166 PDB
1LFD X-ray 210 A B/D 1-167 PDB
1NVU X-ray 220 A Q/R 1-166 PDB
1NVV X-ray 218 A Q/R 1-166 PDB
1NVW X-ray 270 A Q/R 1-166 PDB
1NVX X-ray 320 A Q/R 1-166 PDB
1P2S X-ray 245 A A 1-166 PDB
1P2T X-ray 200 A A 1-166 PDB
1P2U X-ray 200 A A 1-166 PDB
1P2V X-ray 230 A A 1-166 PDB
1PLJ X-ray 280 A A 1-166 PDB
1PLK X-ray 280 A A 1-166 PDB
1PLL X-ray 280 A A 1-166 PDB
1Q21 X-ray 220 A A 1-171 PDB
1QRA X-ray 160 A A 1-166 PDB
1RVD X-ray 190 A A 1-166 PDB
1WQ1 X-ray 250 A R 1-166 PDB
1XCM X-ray 184 A A 1-167 PDB
1XD2 X-ray 270 A A/B 1-166 PDB
1XJ0 X-ray 170 A A 1-166 PDB
1ZVQ X-ray 200 A A 1-166 PDB
1ZW6 X-ray 150 A A 1-166 PDB
221P X-ray 230 A A 1-166 PDB
2C5L X-ray 190 A A/B 1-166 PDB
2CE2 X-ray 100 A X 1-166 PDB
2CL0 X-ray 180 A X 1-166 PDB
2CL6 X-ray 124 A X 1-166 PDB
2CL7 X-ray 125 A X 1-166 PDB
2CLC X-ray 130 A X 1-166 PDB
2CLD X-ray 122 A X 1-166 PDB
2EVW X-ray 105 A X 1-166 PDB
2LCF NMR - A 1-166 PDB
2LWI NMR - A 1-166 PDB
2N42 NMR - A 1-166 PDB
2N46 NMR - A 1-166 PDB
2Q21 X-ray 220 A A 1-171 PDB
2QUZ X-ray 149 A A 1-166 PDB
2RGA X-ray 190 A A 1-166 PDB
2RGB X-ray 135 A A 1-166 PDB
2RGC X-ray 160 A A 1-166 PDB
2RGD X-ray 200 A A 1-166 PDB
2RGE X-ray 140 A A 1-166 PDB
2RGG X-ray 145 A A 1-166 PDB
2UZI X-ray 200 A R 1-166 PDB
2VH5 X-ray 270 A R 1-166 PDB
2X1V X-ray 170 A A 1-166 PDB
3DDC X-ray 180 A A 1-166 PDB
3I3S X-ray 136 A R 1-166 PDB
3K8Y X-ray 130 A A 1-166 PDB
3K9L X-ray 180 A A/B/C 1-166 PDB
3K9N X-ray 200 A A 1-166 PDB
3KKM X-ray 170 A A 1-166 PDB
3KKN X-ray 209 A A 1-166 PDB
3KUD X-ray 215 A A 1-166 PDB
3L8Y X-ray 202 A A 1-166 PDB
3L8Z X-ray 144 A A 1-166 PDB
3LBH X-ray 185 A A 1-166 PDB
3LBI X-ray 209 A A 1-166 PDB
3LBN X-ray 186 A A 1-166 PDB
3LO5 X-ray 257 A A/C/E 1-166 PDB
3OIU X-ray 132 A A 1-166 PDB
3OIV X-ray 184 A A 1-166 PDB
3OIW X-ray 130 A A 1-166 PDB
3RRY X-ray 160 A A 1-166 PDB
3RRZ X-ray 160 A A 1-166 PDB
3RS0 X-ray 140 A A 1-166 PDB
3RS2 X-ray 184 A A 1-166 PDB
3RS3 X-ray 152 A A 1-166 PDB
3RS4 X-ray 170 A A 1-166 PDB
3RS5 X-ray 168 A A 1-166 PDB
3RS7 X-ray 170 A A 1-166 PDB
3RSL X-ray 170 A A 1-166 PDB
3RSO X-ray 160 A A 1-166 PDB
3TGP X-ray 131 A A 1-166 PDB
421P X-ray 220 A A 1-166 PDB
4DLR X-ray 132 A A 1-166 PDB
4DLS X-ray 182 A A 1-166 PDB
4DLT X-ray 170 A A 1-166 PDB
4DLU X-ray 160 A A 1-166 PDB
4DLV X-ray 157 A A 1-166 PDB
4DLW X-ray 172 A A 1-166 PDB
4DLX X-ray 173 A A 1-166 PDB
4DLY X-ray 157 A A 1-166 PDB
4DLZ X-ray 166 A A 1-166 PDB
4DST X-ray 230 A A 2-167 PDB
4DSU X-ray 170 A A 2-167 PDB
4EFL X-ray 190 A A 1-166 PDB
4EFM X-ray 190 A A 1-166 PDB
4EFN X-ray 230 A A 1-166 PDB
4G0N X-ray 245 A A 1-166 PDB
4G3X X-ray 325 A A 1-166 PDB
4K81 X-ray 240 A B/D/F/H 1-166 PDB
4L9S X-ray 161 A A 1-166 PDB
4L9W X-ray 195 A A 1-166 PDB
4NYI X-ray 296 A Q/R 1-166 PDB
4NYJ X-ray 285 A Q/R 1-166 PDB
4NYM X-ray 355 A Q/R 1-166 PDB
4Q21 X-ray 200 A A 1-189 PDB
4RSG Neutron 191 A A 1-166 PDB
4URU X-ray 283 A R 1-166 PDB
4URV X-ray 258 A R 1-166 PDB
4URW X-ray 276 A R 1-166 PDB
4URX X-ray 249 A R 1-166 PDB
4URY X-ray 247 A R 1-166 PDB
4URZ X-ray 224 A R 1-166 PDB
4US0 X-ray 217 A R 1-166 PDB
4US1 X-ray 265 A R 1-166 PDB
4US2 X-ray 248 A R 1-166 PDB
4XVQ X-ray 189 A A 1-166 PDB
4XVR X-ray 203 A A 1-166 PDB
521P X-ray 260 A A 1-166 PDB
5B2Z X-ray 156 A A 1-166 PDB
5B30 X-ray 160 A A 1-166 PDB
5E95 X-ray 140 A A 1-166 PDB
5P21 X-ray 135 A A 1-166 PDB
5VBE X-ray 157 A A 1-166 PDB
5VBZ X-ray 220 A A/B/C 1-166 PDB
5WDO X-ray 165 A A 1-166 PDB
5WDP X-ray 135 A A 1-166 PDB
5WDQ X-ray 125 A A 1-166 PDB
5WFO X-ray 199 A Q/R 1-166 PDB
5WFP X-ray 208 A Q/R 1-166 PDB
5WFQ X-ray 226 A Q/R 1-166 PDB
5WFR X-ray 246 A Q/R 1-166 PDB
5WPL X-ray 215 A A/D/G/J 1-166 PDB
5X9S X-ray 250 A A 1-166 PDB
5ZC6 NMR - A 1-166 PDB
621P X-ray 240 A A 1-166 PDB
6AMB X-ray 250 A A 1-168 PDB
6AXG X-ray 330 A B/D/F/H/J/L 1-166 PDB
6BVI X-ray 175 A A/C 1-166 PDB
6BVJ X-ray 175 A A/C 1-166 PDB
6BVK X-ray 180 A A/C 1-166 PDB
6BVL X-ray 175 A A/C 1-166 PDB
6BVM X-ray 180 A A/C 1-166 PDB
6CUO X-ray 173 A A/C 1-166 PDB
6CUP X-ray 183 A A/C 1-166 PDB
6CUR X-ray 173 A A/C 1-166 PDB
6D55 X-ray 168 A A/C 1-166 PDB
6D56 X-ray 168 A A/C 1-166 PDB
6D59 X-ray 170 A A/C 1-166 PDB
6D5E X-ray 175 A A/C 1-166 PDB
6D5G X-ray 192 A A/C 1-166 PDB
6D5H X-ray 180 A A/C 1-166 PDB
6D5J X-ray 175 A A/C 1-166 PDB
6D5L X-ray 170 A A/C 1-166 PDB
6D5M X-ray 208 A Q/R 1-166 PDB
6D5V X-ray 204 A Q/R 1-166 PDB
6D5W X-ray 248 A Q/R 1-166 PDB
6DZH X-ray 195 A A/B/C 1-166 PDB
6E6C X-ray 190 A A 1-166 PDB
6E6P X-ray 193 A A/B/C 1-166 PDB
6MQT X-ray 150 A A/B/C/D/E/F/G/H 1-166 PDB
6NTC X-ray 290 A A 1-166 PDB
6NTD X-ray 315 A A 1-166 PDB
6Q21 X-ray 195 A A/B/C/D 1-171 PDB
6V94 X-ray 180 A A/C 1-166 PDB
6V9F X-ray 185 A A/C 1-166 PDB
6V9J X-ray 176 A A/C 1-166 PDB
6V9L X-ray 170 A A/C 1-166 PDB
6V9M X-ray 165 A A/C 1-166 PDB
6V9N X-ray 165 A A/C 1-166 PDB
6V9O X-ray 180 A A/C 1-166 PDB
6ZJ0 X-ray 176 A A 1-166 PDB
6ZL3 X-ray 203 A A 1-166 PDB
721P X-ray 200 A A 1-166 PDB
7DPH X-ray 154 A A 1-166 PDB
7DPJ X-ray 198 A A 1-166 PDB
7JHP X-ray 277 A A 1-166 PDB
7JIF X-ray 176 A A 1-166 PDB
7JIG X-ray 232 A A 1-166 PDB
7JIH X-ray 199 A A/B 1-166 PDB
7JII X-ray 153 A A/B 1-166 PDB
7L0F X-ray 198 A A/E/G/L 1-166 PDB
7L0G X-ray 254 A A/B/E/G 1-166 PDB
7OG9 X-ray 175 A A 1-166 PDB
7OGA X-ray 190 A A 1-166 PDB
7OGB X-ray 185 A A 1-166 PDB
7OGC X-ray 170 A A 1-166 PDB
7OGD X-ray 195 A A 1-166 PDB
7OGE X-ray 210 A A 1-166 PDB
7OGF X-ray 180 A A 1-166 PDB
7TAM X-ray 187 A A 1-166 PDB
7VV8 X-ray 170 A A 1-166 PDB
7VV9 X-ray 160 A A 1-170 PDB
7VVG X-ray 170 A A 1-166 PDB
821P X-ray 150 A A 1-166 PDB
8BE6 X-ray 290 A R 1-166 PDB
8BE7 X-ray 300 A R 1-166 PDB
8BE8 X-ray 240 A R 1-166 PDB
8BE9 X-ray 251 A R 1-166 PDB
8BEA X-ray 247 A R 1-166 PDB
8BOS X-ray 210 A R 1-166 PDB
8BWG X-ray 132 A R 1-166 PDB
8CNJ X-ray 135 A A/B 1-166 PDB
8CNN X-ray 148 A A 1-166 PDB
8ELK X-ray 180 A A 1-189 PDB
8ELR X-ray 205 A A 1-189 PDB
8ELS X-ray 227 A A 1-189 PDB
8ELT X-ray 166 A A 1-189 PDB
8ELU X-ray 193 A A 1-189 PDB
8ELV X-ray 215 A A 1-189 PDB
8ELW X-ray 170 A A 1-189 PDB
8ELX X-ray 198 A A 1-189 PDB
8ELY X-ray 175 A A 1-189 PDB
8ELZ X-ray 196 A A 1-189 PDB
8EM0 X-ray 211 A A 1-189 PDB
8FG3 X-ray 149 A A 1-166 PDB
8FG4 X-ray 185 A A 1-166 PDB
8TBG X-ray 120 A A/B 1-166 PDB
AF-P01112-F1 Predicted AlphaFoldDB

780 variants for P01112

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000232309
rs878854761
CA10582926
 2 T>A Costello syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1447218022
RCV000816525
 2 T>M Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs1447218022
RCV001917995
 2 T>R Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
CA5779438
RCV002483665
rs764622691
RCV000598510
RCV001322927
 4 Y>C Large congenital melanocytic nevus Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001912723
rs764622691
 4 Y>S Costello syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001067470
rs1164486792
 9 V>missing Costello syndrome [ClinVar] Yes ClinVar
dbSNP
CA183175
RCV002514997
rs727504496
RCV000155632
RCV000694918
 11 A>T Costello syndrome Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000433587
RCV000762848
RCV001813186
VAR_026106
rs104894230
RCV000435619
COSM120919
RCV000435805
RCV000425511
RCV000440663
RCV000425989
RCV000442448
RCV000423413
RCV000444092
RCV001257536
RCV000207503
RCV000428172
RCV000013437
COSM485
RCV000426130
RCV000436832
RCV000445090
RCV000623953
RCV000432956
RCV000433266
RCV000445257
RCV000418547
RCV000430806
RCV000441501
CA256486
RCV000417508
RCV000423622
RCV000422263
RCV000423741
RCV000428375
 12 G>A Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Glioblastoma Multiple myeloma Rhabdomyosarcoma Myelodysplastic syndrome (mds) Hepatocellular carcinoma Lung adenocarcinoma Inborn genetic diseases Myelodysplastic syndrome Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Noonan syndrome and Noonan-related syndrome Large congenital melanocytic nevus urinary_tract bone Gastric adenocarcinoma Thyroid tumor Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck thyroid Costello syndrome Nasopharyngeal neoplasm Acute myeloid leukemia Adenoid cystic carcinoma Papillary renal cell carcinoma, sporadic Breast neoplasm Malignant melanoma of skin CSTLO [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV000029211
RCV000032851
RCV000149829
RCV000421701
RCV000440052
RCV000419553
RCV000436505
rs104894229
RCV000426992
RCV000431815
RCV000443678
RCV000013447
RCV000443826
VAR_045975
RCV000428012
RCV000418395
RCV000438902
RCV000427213
RCV000444512
RCV000439243
RCV000431602
RCV000429404
COSM481
RCV000437868
RCV000429096
RCV000762849
RCV000212495
COSM1644659
CA129948
RCV000422023
RCV000445233
RCV000424380
RCV000438707
RCV000434677
RCV000424087
RCV000436802
 12 G>C Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma NS Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Multiple myeloma Glioblastoma Myelodysplastic syndrome (mds) skin Hepatocellular carcinoma Lung adenocarcinoma Myelodysplastic syndrome RASopathy Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine Carcinoma of esophagus Large congenital melanocytic nevus urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma Thyroid tumor Epidermal nevus lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck thyroid Urinary bladder carcinoma Costello syndrome Nasopharyngeal neoplasm Acute myeloid leukemia Papillary renal cell carcinoma, sporadic Adenoid cystic carcinoma Breast neoplasm Malignant melanoma of skin CSTLO [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
rs104894230
RCV001375956
RCV000429375
RCV000149830
RCV001813189
RCV000013446
RCV000029210
COSM99915
RCV001255681
COSM484
CA122555
RCV000038460
RCV000212496
VAR_068816
 12 G>D upper_aerodigestive_tract Noonan syndrome and Noonan-related syndrome Lip and oral cavity carcinoma Variant assessed as Somatic; MODERATE impact. Myelodysplastic syndrome (mds) skin urinary_tract Costello syndrome, severe salivary_gland Non-immune hydrops fetalis thyroid RASopathy Costello syndrome soft_tissue breast Breast neoplasm CSTLO; severe mutation [Cosmic, ClinVar, NCI-TCGA, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
VAR_045976
rs727503094
RCV000255809
RCV000150836
CA273158
 12 G>E Costello syndrome CSTLO [ClinVar, UniProt] Yes ClinGen
ClinVar
dbSNP
UniProt
rs104894229
COSM482
COSM3931342
CA16602439
RCV000421560
RCV002230756
RCV000431895
 12 G>R pituitary salivary_gland upper_aerodigestive_tract thyroid Variant assessed as Somatic; MODERATE impact. large_intestine Costello syndrome Myelodysplastic syndrome (mds) urinary_tract skin Neoplasm of the large intestine Thyroid tumor [Cosmic, NCI-TCGA, ClinVar, Ensembl] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000149828
RCV000427772
RCV000433576
CA122549
RCV000440297
COSM1746299
RCV000422253
RCV003450636
rs104894229
RCV000440993
RCV001813185
VAR_006837
RCV000013435
RCV000013436
RCV003450635
RCV000432945
RCV000435163
RCV000445039
RCV000424896
RCV000430725
RCV001267097
RCV001255689
RCV000029209
RCV001257537
RCV000440237
RCV000420366
RCV000430608
RCV002453256
COSM480
RCV000440863
RCV000432984
RCV000432342
RCV000081295
RCV000022796
RCV000438022
RCV000443940
RCV000423310
RCV000430011
RCV000419709
RCV000417494
RCV003398496
RCV000422656
RCV003156059
RCV000425542
RCV000487471
 12 G>S Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Lip and oral cavity carcinoma Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Rhabdomyosarcoma Multiple myeloma Glioblastoma Myelodysplastic syndrome (mds) skin Myopathy, congenital, with excess of muscle spindles Hepatocellular carcinoma Noonan syndrome 1 Lung adenocarcinoma Inborn genetic diseases Myelodysplastic syndrome RASopathy HRAS-related condition Pancreatic adenocarcinoma penis soft_tissue Neoplasm of the large intestine cervix Carcinoma of esophagus Noonan syndrome and Noonan-related syndrome urinary_tract Wooly hair nevus bone Gastric adenocarcinoma Prostate adenocarcinoma Thyroid tumor Epidermal nevus salivary_gland Epidermal nevus with urothelial cancer, somatic Squamous cell carcinoma of the head and neck Uterine carcinosarcoma thyroid large_intestine Costello syndrome Nasopharyngeal neoplasm prostate Acute myeloid leukemia Papillary renal cell carcinoma, sporadic Adenoid cystic carcinoma Breast neoplasm Malignant melanoma of skin CSTLO and CMEMS; also found in patients with oral squamous cell carcinoma [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
rs727503094
RCV000322736
RCV001577794
CA10603217
RCV001732216
 12 G>V Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
RCV003415692
RCV000032850
CA122545
rs104894230
COSM483
RCV003352749
RCV000013433
RCV000013432
RCV000428111
RCV000157912
COSM4193615
RCV000013431
RCV000438340
 12 G>V pituitary cervix upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Melanoma Myelodysplastic syndrome (mds) skin urinary_tract Myopathy, congenital, with excess of muscle spindles stomach Inborn genetic diseases Thyroid tumor Epidermal nevus salivary_gland Malignant tumor of urinary bladder thyroid oesophagus HRAS-related condition Costello syndrome prostate soft_tissue [Cosmic, NCI-TCGA, ClinVar, Ensembl] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA16602878
RCV000424186
RCV000434457
RCV000440965
RCV000442365
rs104894226
RCV000426316
RCV000421384
RCV000425652
RCV000434248
RCV000445345
RCV000433957
 13 G>A Malignant neoplasm of body of uterus Neoplasm of uterine cervix Multiple myeloma Pancreatic adenocarcinoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Neoplasm of the large intestine Lung adenocarcinoma Acute myeloid leukemia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000420958
RCV000424247
RCV000417661
RCV000423190
RCV000431688
RCV000433893
RCV001813188
RCV000013440
RCV000149831
RCV000445225
RCV000207504
RCV000436205
RCV000441514
RCV000439052
RCV000678903
COSM488
RCV000762847
VAR_026107
RCV000436007
RCV000439954
RCV003421918
RCV000428812
RCV000445336
RCV000426653
CA295247
COSM689078
rs104894228
RCV000444110
RCV000434069
RCV000425964
 13 G>C Malignant neoplasm of body of uterus upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Multiple myeloma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma Noonan syndrome HRAS-related condition RASopathy Pancreatic adenocarcinoma Neoplasm of the large intestine Noonan syndrome and Noonan-related syndrome Large congenital melanocytic nevus urinary_tract Gastric adenocarcinoma Thyroid tumor lung Neoplasm Squamous cell carcinoma of the head and neck thyroid Squamous cell lung carcinoma Costello syndrome Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin CSTLO [ClinVar, Cosmic, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV000013438
VAR_026108
RCV003390677
COSM490
RCV000157913
rs104894226
CA256488
RCV001813187
RCV000439514
RCV001376018
RCV002476960
COSM3448604
RCV000781469
 13 G>D upper_aerodigestive_tract Noonan syndrome and Noonan-related syndrome Large congenital melanocytic nevus Variant assessed as Somatic; MODERATE impact. skin urinary_tract Non-immune hydrops fetalis thyroid HRAS-related condition RASopathy Costello syndrome Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue CSTLO [Cosmic, ClinVar, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
VAR_068817
RCV000422625
RCV000418725
COSM486
RCV000420481
RCV001813211
RCV000029213
RCV000419344
RCV001849283
RCV000430227
RCV003458340
RCV000029212
RCV000437649
RCV000173006
RCV000420422
RCV000439826
RCV000173005
RCV000432361
RCV001781319
RCV000431824
RCV000439525
RCV000443949
RCV000427669
COSM99938
RCV000440902
RCV000435072
RCV000424371
RCV001376004
RCV000430065
rs104894228
RCV000032852
CA129950
RCV001255682
 13 G>R Malignant neoplasm of body of uterus upper_aerodigestive_tract Lip and oral cavity carcinoma Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Multiple myeloma skin B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma NEVUS SPILUS, SOMATIC Linear nevus sebaceous syndrome Non-immune hydrops fetalis Epidermolytic nevus SPITZ NEVUS, SOMATIC Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine cutaneous-skeletal hypophosphatemia syndrome Noonan syndrome and Noonan-related syndrome adrenal_gland urinary_tract Gastric adenocarcinoma Thyroid tumor Epidermal nevus lung salivary_gland Squamous cell carcinoma of the head and neck thyroid Squamous cell lung carcinoma Costello syndrome prostate breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways [ClinVar, Cosmic, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV002524694
RCV000435549
RCV000662270
RCV000427918
RCV000417857
RCV000424171
COSM3448605
rs104894228
RCV000440979
RCV000430043
CA16602769
COSM487
RCV000430707
RCV000422141
 13 G>S upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. skin bone Lung adenocarcinoma Vascular Tumors Including Pyogenic Granuloma lung Neoplasm Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Costello syndrome soft_tissue Breast neoplasm Malignant melanoma of skin [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000434580
RCV001849323
RCV000444587
RCV000437080
RCV000432148
RCV000442670
RCV000439230
COSM120918
RCV000436822
RCV000424767
RCV000421468
RCV000429433
RCV000418565
RCV000590121
RCV001255688
rs104894226
RCV000444507
RCV000428389
RCV000419846
COSM489
RCV000426169
RCV000157914
RCV000418712
CA296055
RCV000427265
 13 G>V Malignant neoplasm of body of uterus upper_aerodigestive_tract thymus Thymoma Lip and oral cavity carcinoma Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Multiple myeloma skin B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine urinary_tract KA-like vemurafenib-induced squamous lesions Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck thyroid Squamous cell lung carcinoma Costello syndrome Acute myeloid leukemia Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, NCI-TCGA] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
COSM238586
rs1589793707
RCV000810329
 14 V>G Costello syndrome prostate [ClinVar, Cosmic] Yes cosmic curated
ClinVar
Ensembl
dbSNP
rs1554885139
RCV001922109
 15 G>A Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000662271
COSM1354332
rs1554885139
COSM1354331
 15 G>D large_intestine Vascular Tumors Including Pyogenic Granuloma [Cosmic, ClinVar] Yes cosmic curated
ClinVar
Ensembl
dbSNP
rs121917757
RCV000143898
CA122553
RCV000013443
VAR_045977
RCV000157915
 22 Q>K Costello syndrome Myopathy, congenital, with excess of muscle spindles CMEMS [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
dbSNP
gnomAD
rs1226305644
RCV001996287
 30 D>N Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs756934316
RCV001908473
 33 D>E Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV001219408
rs1851315835
 33 D>N Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs2133994210
RCV001360851
 34 P>L Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000662272
rs1348427922
 34 P>S Vascular Tumors Including Pyogenic Granuloma [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs2133994194
RCV001997641
 35 T>A Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs775056058
RCV001888117
 36 I>T Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1060502663
CA16613600
RCV000475424
 36 I>V Costello syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs398122809
CA259683
RCV000022798
 37 E>missing Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
rs2133994149
RCV001371797
 37 E>missing Costello syndrome [ClinVar] Yes ClinVar
dbSNP
VAR_068818 37 E>EE CSTLO [UniProt] Yes UniProt
rs2133991854
RCV001948765
 39 S>T Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001959252
rs2133991697
 43 Q>* Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1028352031
RCV003169563
RCV001335259
 45 V>D Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1564789708
RCV001044559
 45 V>I Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001297540
rs1851286467
 46 I>M Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000681108
rs1564789700
RCV001861890
 46 I>T Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs2133991578
RCV003332372
RCV002017989
 46 I>V Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV002530595
RCV000662269
rs1277340795
 49 E>K Costello syndrome Vascular Tumors Including Pyogenic Granuloma [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs1277340795
RCV002038934
 49 E>Q Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001974222
rs2133990973
 57 D>missing Costello syndrome [ClinVar] Yes ClinVar
dbSNP
CA341206
RCV000013444
rs121917758
RCV003221783
VAR_045978
 58 T>I Costello syndrome CSTLO [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA273607
rs727504747
RCV000156047
 59 A>L Costello syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs727503093
RCV001813657
RCV002541490
 59 A>S Noonan syndrome and Noonan-related syndrome Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000150835
CA176353
RCV000150834
COSM495
rs727503093
COSM927875
 59 A>T upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Costello syndrome endometrium Non-small cell lung carcinoma [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs878854757
RCV000229731
CA10582925
 60 G>missing Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
RCV001387769
CA296057
RCV000157917
rs730880460
 60 G>D Costello syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1589792804
COSM1354328
RCV000818197
COSM1354327
 60 G>S Variant assessed as Somatic; MODERATE impact. large_intestine Costello syndrome [NCI-TCGA, Cosmic, ClinVar] Yes NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
rs730880460
CA16606948
RCV000443979
RCV002060067
 60 G>V Large congenital melanocytic nevus Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000427302
RCV000435578
rs28933406
RCV000431015
CA16602879
RCV000437532
RCV000432499
RCV000422470
RCV000423098
RCV000424391
RCV000442518
RCV000444550
RCV000444619
RCV000432733
RCV000420757
COSM497
 61 Q>E Malignant neoplasm of body of uterus cervix Multiple myeloma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Thyroid tumor Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Malignant melanoma of skin [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
COSM503
RCV000433734
rs121913496
RCV000428014
COSM502
RCV000421964
RCV000433099
RCV000440259
COSM1703315
RCV000442468
RCV000420806
CA16602765
RCV000589258
RCV000424686
CA16602764
RCV000423449
RCV000444731
RCV000434965
 61 Q>H Variant assessed as Somatic; MODERATE impact. Noonan syndrome 3 Lung adenocarcinoma Prostate adenocarcinoma Thyroid tumor Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Malignant melanoma of skin Breast neoplasm Neoplasm upper_aerodigestive_tract thyroid skin endometrium prostate haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) [NCI-TCGA, ClinVar, Cosmic, Ensembl] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000022795
RCV001255683
rs28933406
RCV000439343
RCV000681435
COSM123649
VAR_045979
RCV000013434
RCV000587258
CA122547
COSM496
 61 Q>K upper_aerodigestive_tract Thyroid cancer, nonmedullary, 2 Lip and oral cavity carcinoma Variant assessed as Somatic; MODERATE impact. adrenal_gland Spermatocytic seminoma urinary_tract skin Noonan syndrome 3 testis salivary_gland lung kidney thyroid autonomic_ganglia soft_tissue Breast neoplasm NMTC2; somatic mutation; increases transformation of cultured cell lines [Cosmic, ClinVar, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV000425694
RCV001849368
RCV000433098
RCV000430634
RCV000438465
RCV000428206
COSM99664
RCV000420395
VAR_006838
rs121913233
RCV000426826
RCV000421974
RCV001372584
RCV001255684
RCV000428443
RCV000445166
RCV000421690
RCV000439626
COSM498
RCV000445204
RCV000438263
CA16602500
RCV000437079
RCV000420623
RCV000436845
 61 Q>L Malignant neoplasm of body of uterus upper_aerodigestive_tract Lip and oral cavity carcinoma Variant assessed as Somatic; MODERATE impact. Multiple myeloma skin Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma Pancreatic adenocarcinoma penis Neoplasm of the large intestine liver urinary_tract KA-like vemurafenib-induced squamous lesions Gastric adenocarcinoma Thyroid tumor Prostate adenocarcinoma lung salivary_gland Squamous cell carcinoma of the head and neck thyroid oesophagus Squamous cell lung carcinoma Costello syndrome prostate Acute myeloid leukemia Malignant melanoma of skin Breast neoplasm melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines [ClinVar, Cosmic, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
NCI-TCGA
dbSNP
gnomAD
RCV000430658
RCV000428681
RCV000430030
RCV000435915
RCV000435489
RCV000420448
RCV000441832
rs121913233
RCV000440764
RCV000419094
RCV000428741
CA16602768
RCV000435275
RCV000425877
RCV000417619
RCV000424105
COSM500
 61 Q>P Malignant neoplasm of body of uterus upper_aerodigestive_tract Multiple myeloma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Thyroid tumor Neoplasm thyroid Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Malignant melanoma of skin [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
rs1057519855
CA16602766
RCV000435225
RCV000418005
CA16602767
 61 Q>R Neoplasm [ClinVar] Yes ClinGen
ClinVar
dbSNP
CA173968
COSM499
RCV000148033
RCV000437086
COSM244958
RCV000662268
rs121913233
COSM501
RCV000418550
RCV001813393
RCV000157918
RCV001844808
 61 Q>R genital_tract cervix upper_aerodigestive_tract Noonan syndrome and Noonan-related syndrome Variant assessed as Somatic; MODERATE impact. adrenal_gland urinary_tract skin testis Thyroid tumor Vascular Tumors Including Pyogenic Granuloma lung salivary_gland Linear nevus sebaceous syndrome Neoplasm ovary thyroid autonomic_ganglia prostate haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar, NCI-TCGA] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
rs1554884966
RCV000546898
CA658656102
 62 E>missing Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
RCV000013442
rs121917756
RCV000485616
RCV002272015
CA122551
VAR_045980
 63 E>K Costello syndrome Myopathy, congenital, with excess of muscle spindles CMEMS [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs587777239
CA267613
RCV000106320
 63 E>missing Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
RCV002420839
rs1370690781
RCV001372298
 68 R>G Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs730880461
RCV001321198
 68 R>L Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
CA296059
rs730880461
RCV000557317
RCV002271424
 68 R>Q Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1370690781
RCV001906898
RCV003235615
 68 R>W Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001370190
rs2133990650
 71 Y>H Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1291306227
RCV002259278
RCV003774794
 74 T>I Costello syndrome Hereditary cancer-predisposing syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs756190012
RCV001900092
 75 G>R Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV000824932
rs1589792614
 78 F>missing Costello syndrome [ClinVar] Yes ClinVar
dbSNP
rs1851275137
RCV001312421
 79 L>Q Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000704627
rs1370566417
 80 C>S Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
rs1851274209
RCV001206337
 82 F>C Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1851274209
RCV001306208
 82 F>S Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
CA180888
RCV000519779
rs138272051
RCV000680288
RCV001085194
RCV001813234
RCV001261051
RCV002257370
RCV000154506
 86 N>T Noonan syndrome and Noonan-related syndrome Noonan syndrome RASopathy Hereditary cancer-predisposing syndrome Costello syndrome [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001347584
rs1851272986
 87 T>I Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV001224158
rs1851272986
 87 T>N Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs1851272638
RCV001204299
 88 K>R Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001307584
rs1589792507
 90 F>S Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001231755
rs1851272209
 91 E>* Costello syndrome [ClinVar] Yes ClinVar
dbSNP
rs1589792495
RCV000823640
 92 D>A Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
COSM219131
rs1851271948
RCV001209828
 92 D>N Costello syndrome skin [ClinVar, Cosmic] Yes cosmic curated
ClinVar
Ensembl
dbSNP
rs2133989896
RCV001843332
 93 I>T Parathyroid gland adenoma [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000524082
rs587782949
RCV000143899
RCV000157920
CA296061
 93 I>V Pulmonic stenosis Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001056731
rs375893752
 94 H>Q Costello syndrome [ClinVar] Yes ClinVar
ESP
ExAC
dbSNP
gnomAD
RCV001069666
rs144718261
 94 H>Y Costello syndrome [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001935564
rs925794740
 95 Q>H Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs2133989835
RCV002198241
 95 Q>R Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001931785
rs751137946
 98 E>K Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
rs1851251123
RCV001240627
 99 Q>E Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs199656012
RCV001231060
 99 Q>H Costello syndrome [ClinVar] Yes 1000Genomes
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
RCV000705122
RCV000494039
rs1131691997
CA378923959
 101 K>R Costello syndrome [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA16042846
rs1057517913
RCV000414564
RCV001369972
 102 R>W Costello syndrome [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV002040529
rs1213269684
 103 V>L Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001321698
rs1213269684
 103 V>M Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001948371
rs1274939921
 105 D>N Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs730880462
CA5779333
RCV000469881
 106 S>L Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs730880462
RCV002321658
RCV000157921
RCV000816581
CA296064
 106 S>W Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1204223913
RCV001372946
 110 P>L Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs1564789063
RCV000689351
 111 M>T Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000013439
rs104894227
VAR_045981
RCV000353386
CA256490
 117 K>R Variant assessed as Somatic; MODERATE impact. Costello syndrome CSTLO [NCI-TCGA, ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
rs376667492
RCV002048924
 121 A>D Costello syndrome [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1851245429
RCV001338691
RCV003153999
 121 A>T Costello syndrome Ovarian cancer [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001921064
rs779711606
 122 A>V Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV001953316
rs369106578
 123 R>G Costello syndrome [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002027674
COSM1675703
rs730880464
COSM1675704
 123 R>H Variant assessed as Somatic; MODERATE impact. Costello syndrome haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] Yes NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs730880464
RCV000533738
RCV002257459
CA296068
 123 R>P Hereditary cancer-predisposing syndrome Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs763754805
RCV001948892
 126 E>Q Costello syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002033573
COSM320873
COSM320874
rs1554884794
 128 R>L lung Costello syndrome [Cosmic, ClinVar] Yes cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
RCV000637305
CA378923056
rs1554884794
 128 R>P Costello syndrome [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001234711
rs1554884794
 128 R>Q Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001329395
rs1851242529
 129 Q>R Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1564788957
RCV000707594
 130 A>P Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
RCV000456787
RCV002374788
rs766801436
RCV001535653
CA5779320
RCV000681068
RCV003151066
 133 L>H Linear nevus sebaceous syndrome Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000038463
RCV000230783
rs397517141
CA135986
 134 A>V Costello syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1473091760
RCV001298446
COSM1354321
COSM1354322
 135 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine Costello syndrome [NCI-TCGA, Cosmic, ClinVar] Yes cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV001208775
rs748289593
 136 S>N Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
rs1180561549
RCV001036900
RCV002505558
RCV002320236
 137 Y>S Large congenital melanocytic nevus Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs1851237302
RCV001223776
 138 G>missing Costello syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000558860
rs1554884772
CA378922932
 138 G>D Costello syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1554884772
RCV002021551
 138 G>V Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs745637518
RCV001232757
 140 P>L Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV002258094
rs372048612
RCV001039872
 141 Y>C Costello syndrome Hereditary cancer-predisposing syndrome [ClinVar] Yes ClinVar
ESP
dbSNP
gnomAD
rs533567288
RCV002327468
RCV001204909
 142 I>M Costello syndrome [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001871491
rs2133986466
 142 I>T Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1226399807
RCV002004007
 143 E>D Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs104894231
VAR_045982
 146 A>T CSTLO [UniProt] Yes UniProt
Ensembl
dbSNP
RCV000013445
RCV000427529
RCV000436710
rs121917759
RCV000419902
VAR_045983
RCV000436017
RCV000426668
CA256494
RCV000444744
 146 A>V Neoplasm of uterine cervix Multiple myeloma Costello syndrome Neoplasm of the large intestine Gastric adenocarcinoma Lung adenocarcinoma Acute myeloid leukemia CSTLO [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs2133986181
RCV001917597
 149 R>missing Costello syndrome [ClinVar] Yes ClinVar
dbSNP
CA378921260
rs1362209698
RCV000525978
 151 G>A Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001777111
RCV002541093
rs1851183840
 152 V>M Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV000434487
RCV000637302
rs745497215
CA5779226
 154 D>N Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1434040739
RCV000701626
 154 D>V Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001205671
rs1171537215
 155 A>S Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001373169
rs1171537215
 155 A>T Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs1269551105
RCV001238905
 155 A>V Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs2133982557
RCV001789705
 156 F>L Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001305343
rs1851182643
 157 Y>H Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
CA160026
RCV000121201
RCV000813562
rs587778400
 158 T>M Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs2133982455
RCV002050671
 159 L>S Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1851181776
RCV001319495
 160 V>A Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
CA5779221
rs748729430
RCV001202259
RCV000616994
 161 R>H Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001872917
rs2133982236
 161 R>missing Costello syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000797879
RCV002501060
rs758956556
RCV001592979
 161 R>C Large congenital melanocytic nevus Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
rs758956556
RCV002258705
 161 R>G Hereditary cancer-predisposing syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV001550317
rs1564787942
RCV001337613
 162 E>K Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000704391
rs1564787934
 163 I>F Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
RCV002481991
RCV001054590
rs753977266
 164 R>P Large congenital melanocytic nevus Costello syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV003398958
RCV001776147
RCV001219438
rs753977266
 164 R>Q HRAS-related condition Costello syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002259010
RCV000703060
rs779101895
 164 R>W Hereditary cancer-predisposing syndrome Costello syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs878854760
CA10582922
RCV000228331
 166 H>Q Costello syndrome [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001318591
rs1851180327
RCV003399099
 166 H>R HRAS-related condition Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1439562437
RCV001938019
 166 H>Y Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs756367459
RCV001203653
RCV001813581
 168 L>P Noonan syndrome and Noonan-related syndrome Costello syndrome [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV001338600
rs142218590
 169 R>L Costello syndrome [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000463046
rs142218590
RCV003390855
RCV002258816
CA296075
RCV000505776
RCV002492617
 169 R>Q Large congenital melanocytic nevus Variant assessed as Somatic; MODERATE impact. HRAS-related condition Costello syndrome Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV002505170
RCV000803493
CA180998
RCV002345496
RCV000154576
rs151229168
 169 R>W Large congenital melanocytic nevus Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs372936166
CA296052
RCV002477044
RCV000157909
RCV000551172
 170 K>* Large congenital melanocytic nevus Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001364047
rs913523409
 172 N>S Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000526328
CA378921066
RCV001260727
rs1171786943
 173 P>L Intellectual disability Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1851178613
RCV001325045
RCV002466661
 173 P>S Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001813656
rs2133982181
 174 P>H Noonan syndrome and Noonan-related syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000234040
RCV002258783
RCV000520658
CA135994
rs397517144
RCV000038467
RCV000755642
 174 P>S Large congenital melanocytic nevus RASopathy Hereditary cancer-predisposing syndrome Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001888222
rs1191074796
 177 S>N Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV000817769
rs1445835026
 178 G>R Costello syndrome [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs1201430199
RCV000898724
 179 P>A Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001360423
RCV002269365
rs760429548
 179 P>L Costello syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001919589
RCV003159220
rs1201430199
RCV002344051
 179 P>S Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV001219695
rs1851175904
 180 G>D Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs772602067
RCV002269317
RCV000810206
 180 G>S Costello syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1187682907
RCV001346242
 181 C>Y Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
RCV000229010
rs748639813
CA5779209
 182 M>I Costello syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs730880465
RCV001217922
 182 M>L Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001341872
rs1851174858
 182 M>T Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001219043
CA296070
RCV000157924
rs730880465
 182 M>V Costello syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs2133982018
RCV001918427
 184 C>S Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs2133982018
RCV001874567
 184 C>Y Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
CA658797554
RCV000637304
rs1554884418
 185 K>missing Costello syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
RCV001309436
rs1851173673
 187 V>A Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1851173462
RCV001061654
 189 S>A Costello syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1851173218
RCV001210405
 189 S>F Costello syndrome [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs878854761 2 T>S No Ensembl
rs2133995214 3 E>* No Ensembl
rs2133995205 3 E>G No Ensembl
rs2133995214 3 E>K No Ensembl
rs2133995214 3 E>Q No Ensembl
rs2133995153 4 Y>* No Ensembl
rs1554885164 4 Y>D No Ensembl
RCV000590817
CA378926252
rs1554885164
 4 Y>H No ClinGen
ClinVar
Ensembl
dbSNP
rs1554885164 4 Y>N No Ensembl
rs2133995142 5 K>E No Ensembl
rs2133995114 6 L>Q No Ensembl
rs763376142 6 L>V No ExAC
TOPMed
gnomAD
rs2133995083 7 V>E No Ensembl
rs2133995083 7 V>G No Ensembl
rs2133995093 7 V>L No Ensembl
rs2133995063 8 V>L No Ensembl
rs2133995063 8 V>M No Ensembl
rs1851320945 9 V>L No Ensembl
rs1851320945 9 V>M No Ensembl
CA658683664
RCV000586325
rs1554885154
 10 G>missing No ClinGen
ClinVar
dbSNP
rs2133995008 10 G>C No Ensembl
rs2133995008 10 G>R No Ensembl
rs2133995008 10 G>S No Ensembl
rs2133994968 11 A>G No Ensembl
rs727504496 11 A>P No ExAC
TOPMed
gnomAD
rs2133994968 11 A>V No Ensembl
rs727503094
RCV000157929
CA296077
 12 G>A No ClinGen
ClinVar
dbSNP
CA296072
rs727503094
RCV001678586
 12 G>D No ClinGen
ClinVar
dbSNP
TCGA novel 13 G>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1589793707 14 V>E No Ensembl
rs2133994832 14 V>L No Ensembl
rs2133994832 14 V>M No Ensembl
rs2133994803 15 G>C No Ensembl
rs2133994803 15 G>R No Ensembl
rs2133994803
COSM110720
 15 G>S thyroid [Cosmic] No cosmic curated
Ensembl
rs1554885139 15 G>V No Ensembl
rs2133994767 16 K>E No Ensembl
rs2133994758 16 K>M No Ensembl
rs2133994746 16 K>N No Ensembl
rs2133994758 16 K>R No Ensembl
rs2133994736 17 S>C No Ensembl
rs2133994723 17 S>I No Ensembl
rs2133994723 17 S>N No Ensembl
rs2133994714 17 S>R No Ensembl
rs2133994723 17 S>T No Ensembl
rs2133994692 18 A>E No Ensembl
rs2133994692 18 A>G No Ensembl
rs2133994706 18 A>P No Ensembl
COSM327244
COSM308583
rs2133994692
 18 A>V upper_aerodigestive_tract haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs2133994664 19 L>Q No Ensembl
rs2133994674 19 L>V No Ensembl
rs2133994636 20 T>A No Ensembl
COSM25089
rs1851317850
 20 T>I skin [Cosmic] No cosmic curated
Ensembl
rs2133994636 20 T>P No Ensembl
rs1851317850 20 T>S No Ensembl
rs2133994636 20 T>S No Ensembl
rs2133994602 21 I>F No Ensembl
rs1851317598 21 I>M No TOPMed
rs2133994591 21 I>N No Ensembl
rs2133994591 21 I>S No Ensembl
rs2133994591 21 I>T No Ensembl
CA5779431
rs121917757
RCV000269895
COSM494
 22 Q>* thyroid [Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
rs749193206 22 Q>H No ExAC
gnomAD
rs1445047175 22 Q>R No TOPMed
gnomAD
rs2133994532 23 L>P No Ensembl
rs2133994532 23 L>Q No Ensembl
rs2133994539 23 L>V No Ensembl
rs1227307993 24 I>M No gnomAD
rs2133994492 24 I>N No Ensembl
rs2133994492 24 I>S No Ensembl
rs2133994508 24 I>V No Ensembl
rs2133994479 25 Q>* No Ensembl
rs779600254 25 Q>H No ExAC
TOPMed
gnomAD
rs2133994454 26 N>H No Ensembl
rs2133994440 26 N>I No Ensembl
rs2133994430 26 N>K No Ensembl
rs2133994440 26 N>S No Ensembl
rs2133994440 26 N>T No Ensembl
rs2133994454 26 N>Y No Ensembl
rs2133994418 27 H>D No Ensembl
rs2133994409 27 H>L No Ensembl
rs2133994418 27 H>N No Ensembl
rs2133994418 27 H>Y No Ensembl
rs2133994386 29 V>E No Ensembl
rs745489020 30 D>E No ExAC
TOPMed
gnomAD
rs2133994355 30 D>G No Ensembl
rs1226305644 30 D>H No gnomAD
rs1226305644 30 D>Y No gnomAD
rs2133994335 31 E>* No Ensembl
rs2133994335 31 E>K No Ensembl
rs2133994335 31 E>Q No Ensembl
rs2133994324 31 E>V No Ensembl
rs369039481
COSM1254399
COSM1254398
 32 Y>* oesophagus [Cosmic] No cosmic curated
ESP
ExAC
gnomAD
rs2133994304 32 Y>C No Ensembl
rs2133994310 32 Y>D No Ensembl
rs2133994304 32 Y>F No Ensembl
rs2133994310 32 Y>H No Ensembl
rs2133994310 32 Y>N No Ensembl
rs2133994304 32 Y>S No Ensembl
rs2133994258 33 D>A No Ensembl
rs2133994258 33 D>G No Ensembl
rs1851315835 33 D>H No Ensembl
rs2133994258 33 D>V No Ensembl
rs1851315835 33 D>Y No Ensembl
rs2133994210 34 P>H No Ensembl
rs2133994210 34 P>R No Ensembl
rs1348427922 34 P>T No gnomAD
rs2133994186 35 T>S No Ensembl
rs775056058 36 I>K No Ensembl
rs1060502663 36 I>L No Ensembl
rs2133994136 37 E>* No Ensembl
rs1851314734 37 E>D No Ensembl
rs2133994136 37 E>K No Ensembl
rs2133994119 37 E>V No Ensembl
rs2133991872 38 D>A No Ensembl
rs2133991862 38 D>E No Ensembl
rs750680771 38 D>H No ExAC
gnomAD
rs750680771 38 D>N No ExAC
gnomAD
rs2133991872 38 D>V No Ensembl
rs750680771 38 D>Y No ExAC
gnomAD
rs2133991841 39 S>C No Ensembl
rs2133991841 39 S>F No Ensembl
rs2133991841 39 S>Y No Ensembl
rs763920334 40 Y>* No ExAC
gnomAD
rs2133991806 40 Y>F No Ensembl
rs2133991816 40 Y>H No Ensembl
rs2133991816 40 Y>N No Ensembl
rs2133991780 41 R>G No Ensembl
rs868439179 41 R>L No Ensembl
rs868439179 41 R>P No Ensembl
COSM5576071
rs868439179
COSM5576070
 41 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2133991780 41 R>W No Ensembl
rs2133991738 42 K>* No Ensembl
rs2133991738 42 K>E No Ensembl
rs2133991728 42 K>M No Ensembl
rs775378080 42 K>N No ExAC
gnomAD
rs2133991728 42 K>R No Ensembl
rs2133991697 43 Q>E No Ensembl
rs2133991657 43 Q>H No Ensembl
rs2133991697 43 Q>K No Ensembl
rs2133991683 43 Q>L No Ensembl
rs2133991683 43 Q>R No Ensembl
rs2133991639 44 V>E No Ensembl
rs2133991639 44 V>G No Ensembl
rs2133991648 44 V>L No Ensembl
rs2133991648 44 V>M No Ensembl
rs1564789708 45 V>F No Ensembl
rs1564789708 45 V>L No Ensembl
rs2133991578 46 I>F No Ensembl
rs1564789700 46 I>N No Ensembl
rs765092617 47 D>E No ExAC
TOPMed
gnomAD
rs2133991539 47 D>G No Ensembl
rs2133991539 47 D>V No Ensembl
rs2133991496 48 G>A No Ensembl
rs2133991496 48 G>E No Ensembl
rs2133991509 48 G>R No Ensembl
rs2133991496 48 G>V No Ensembl
rs2133991509 48 G>W No Ensembl
rs1277340795 49 E>* No TOPMed
gnomAD
rs2133991462 49 E>D No Ensembl
rs2133991453 50 T>A No Ensembl
rs1448375861 50 T>M No TOPMed
gnomAD
rs2133991453 50 T>P No Ensembl
rs1448375861 50 T>R No TOPMed
gnomAD
rs2133991453 50 T>S No Ensembl
rs759482455 51 C>* No ExAC
TOPMed
gnomAD
rs1183526920 51 C>G No gnomAD
rs1183526920 51 C>R No gnomAD
rs2133991397 51 C>S No Ensembl
rs1183526920 51 C>S No gnomAD
rs759482455 51 C>W No ExAC
TOPMed
gnomAD
rs2133991397 51 C>Y No Ensembl
rs2133991373 52 L>M No Ensembl
rs1851285264 52 L>P No TOPMed
rs1851285264 52 L>Q No TOPMed
rs1851285264 52 L>R No TOPMed
rs2133991373 52 L>V No Ensembl
rs2133991328 53 L>* No Ensembl
rs1205035369 53 L>F No gnomAD
rs2133991328 53 L>S No Ensembl
rs1057520410 54 D>E No Ensembl
rs1851284681 54 D>G No TOPMed
rs2133991299 54 D>H No Ensembl
rs2133991299 54 D>N No Ensembl
rs1851284681 54 D>V No TOPMed
rs2133991299 54 D>Y No Ensembl
rs2133991274 55 I>F No Ensembl
rs2133991274 55 I>L No Ensembl
rs1261188136 55 I>M No gnomAD
rs2133991259 55 I>N No Ensembl
rs2133991259 55 I>S No Ensembl
rs2133991259 55 I>T No Ensembl
RCV001194132
rs1851284408
 56 L>missing No ClinVar
dbSNP
rs2133991227 56 L>M No Ensembl
rs2133991213 56 L>P No Ensembl
rs2133991213 56 L>Q No Ensembl
rs2133991227 56 L>V No Ensembl
rs776105083 57 D>E No ExAC
TOPMed
gnomAD
rs2133991188 57 D>H No Ensembl
rs2133991188 57 D>N No Ensembl
rs2133991188 57 D>Y No Ensembl
rs770492627 58 T>A No ExAC
gnomAD
rs770492627 58 T>P No ExAC
gnomAD
rs770492627 58 T>S No ExAC
gnomAD
rs121917758 58 T>S No Ensembl
RCV000860022
rs1589792836
 58 T>VLDV No ClinVar
dbSNP
rs2133991112 59 A>D No Ensembl
rs2133991112 59 A>G No Ensembl
rs727503093 59 A>P No Ensembl
rs2133991112 59 A>V No Ensembl
rs730880460 60 G>A No Ensembl
rs1589792804 60 G>C No Ensembl
rs1589792804 60 G>R No Ensembl
rs28933406 61 Q>* No Ensembl
COSM244958
COSM499
COSM501
rs2133991038
 61 Q>R genital_tract cervix upper_aerodigestive_tract adrenal_gland urinary_tract skin testis lung salivary_gland ovary thyroid autonomic_ganglia prostate haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs2133990979 62 E>* No Ensembl
rs2133990958 62 E>D No Ensembl
rs2133990979 62 E>K No Ensembl
rs2133990979 62 E>Q No Ensembl
rs121917756 63 E>* No Ensembl
rs2133990918 63 E>D No Ensembl
rs2133990935 63 E>G No Ensembl
rs121917756 63 E>Q No Ensembl
rs2133990935 63 E>V No Ensembl
rs2133990881 64 Y>* No Ensembl
rs2133990895 64 Y>C No Ensembl
rs1564789552 64 Y>D No Ensembl
rs2133990895 64 Y>F No Ensembl
rs1564789552 64 Y>H No Ensembl
rs1564789552 64 Y>N No Ensembl
rs2133990895 64 Y>S No Ensembl
rs2133990872 65 S>C No Ensembl
rs2133990872 65 S>G No Ensembl
rs1851279668 65 S>I No Ensembl
rs1851279668 65 S>N No Ensembl
rs2133990872 65 S>R No Ensembl
rs898057728 65 S>R No TOPMed
gnomAD
rs1851279668 65 S>T No Ensembl
rs2133990820 66 A>G No Ensembl
rs2133990837 66 A>P No Ensembl
rs2133990837 66 A>S No Ensembl
COSM161604
rs2133990837
COSM161605
 66 A>T breast [Cosmic] No cosmic curated
Ensembl
rs2133990820 66 A>V No Ensembl
rs2133990773 67 M>I No Ensembl
rs2133990784 67 M>K No Ensembl
rs771774973 67 M>L No ExAC
gnomAD
rs2133990784 67 M>R No Ensembl
rs2133990784 67 M>T No Ensembl
rs771774973 67 M>V No ExAC
gnomAD
rs2133990702 69 D>A No Ensembl
rs2133990702 69 D>G No Ensembl
rs2133990702 69 D>V No Ensembl
rs2133990672 70 Q>* No Ensembl
rs2133990672 70 Q>E No Ensembl
rs779428004 71 Y>* No ExAC
gnomAD
rs2133990638 71 Y>C No Ensembl
rs2133990650 71 Y>D No Ensembl
rs2133990650 71 Y>N No Ensembl
RCV002254473
rs2133990580
 72 M>HSAMRDQYM No ClinVar
dbSNP
COSM1732634
rs2133990588
 72 M>I thyroid [Cosmic] No cosmic curated
Ensembl
rs755488418 72 M>K No ExAC
gnomAD
RCV000756250
rs1564789500
 72 M>L No ClinVar
Ensembl
dbSNP
rs755488418 72 M>R No ExAC
gnomAD
rs755488418 72 M>T No ExAC
gnomAD
rs749674880 73 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs749674880 73 R>G No Ensembl
rs2133990552 73 R>H No Ensembl
rs2133990552 73 R>L No Ensembl
RCV002254474
rs2133990531
 73 R>NSAMRDQYMR No ClinVar
dbSNP
rs2133990552 73 R>P No Ensembl
rs749674880 73 R>S No Ensembl
rs2133990520 74 T>A No Ensembl
rs2133990520 74 T>P No Ensembl
rs1291306227 74 T>S No gnomAD
rs2133990520 74 T>S No Ensembl
rs2133990470 75 G>A No Ensembl
rs2133990470 75 G>E No Ensembl
rs756190012 75 G>W No ExAC
gnomAD
rs2133990444 76 E>* No Ensembl
rs1057522598 76 E>D No gnomAD
rs2133990433 76 E>G No Ensembl
rs2133990444 76 E>K No Ensembl
rs2133990444 76 E>Q No Ensembl
rs2133990433 76 E>V No Ensembl
rs1255434828 77 G>A No gnomAD
rs1309567083 77 G>C No gnomAD
rs1255434828 77 G>D No gnomAD
rs1309567083 77 G>R No gnomAD
rs1309567083 77 G>S No gnomAD
rs1255434828 77 G>V No gnomAD
rs2133990375 78 F>I No Ensembl
rs1057522882 78 F>L No Ensembl
rs2133990375 78 F>L No Ensembl
rs2133990367 78 F>S No Ensembl
rs2133990375 78 F>V No Ensembl
rs2133990367 78 F>Y No Ensembl
rs193163027 79 L>M No 1000Genomes
ExAC
gnomAD
rs1851275137 79 L>P No Ensembl
rs193163027 79 L>V No 1000Genomes
ExAC
gnomAD
rs2133990288 80 C>* No Ensembl
rs1370566417 80 C>G No TOPMed
rs2133990300 80 C>S No Ensembl
rs2133990288 80 C>W No Ensembl
rs2133990300 80 C>Y No Ensembl
rs2133990263 81 V>A No Ensembl
rs2133990263 81 V>E No Ensembl
rs2133990263 81 V>G No Ensembl
rs2133990275 81 V>L No Ensembl
COSM14182
rs2133990275
 81 V>M haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs757505540 82 F>L No ExAC
gnomAD
rs2133990211 82 F>L No Ensembl
COSM14183
rs2133990192
 83 A>D upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
rs2133990192 83 A>G No Ensembl
rs2133990202 83 A>P No Ensembl
rs2133990202 83 A>T No Ensembl
COSM1354325
rs2133990192
COSM1354326
 83 A>V large_intestine [Cosmic] No cosmic curated
Ensembl
rs2133990154 84 I>M No Ensembl
rs2133990167 84 I>N No Ensembl
rs2133990167 84 I>T No Ensembl
rs765074166 85 N>D No ExAC
gnomAD
rs765074166 85 N>Y No ExAC
gnomAD
rs2133990128 86 N>D No Ensembl
rs138272051 86 N>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138272051 86 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2133990128 86 N>Y No Ensembl
rs2133990091 87 T>A No Ensembl
rs2133990091 87 T>P No Ensembl
rs2133990091 87 T>S No Ensembl
rs1851272986 87 T>S No gnomAD
rs2133990052 88 K>N No Ensembl
rs2133990041 89 S>A No Ensembl
RCV000207497
VAR_078259
rs755322824
CA351483
 89 S>C found in a patient with severe fetal hydrops and pleural effusion; uncertain significance; decreased activation of Ras protein signal transduction [UniProt] No ClinGen
ClinVar
UniProt
TOPMed
dbSNP
gnomAD
rs755322824 89 S>F No TOPMed
gnomAD
rs2133990041 89 S>P No Ensembl
rs2133990041 89 S>T No Ensembl
rs2133990009 90 F>I No Ensembl
rs2133989979 90 F>L No Ensembl
rs2133990009 90 F>L No Ensembl
rs1589792507 90 F>Y No Ensembl
rs1851272074 91 E>D No TOPMed
rs2133989967 91 E>G No Ensembl
COSM1298127
COSM1298126
 91 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2133989967 91 E>V No Ensembl
rs2133989925 92 D>E No Ensembl
rs1851271948 92 D>H No Ensembl
rs1851271948 92 D>Y No Ensembl
rs587782949 93 I>F No gnomAD
rs587782949 93 I>L No gnomAD
rs2133989886 93 I>M No Ensembl
rs2133989896 93 I>N No Ensembl
rs1408819968 94 H>P No TOPMed
gnomAD
rs1408819968 94 H>R No TOPMed
gnomAD
rs2133989846 95 Q>* No Ensembl
rs2133989846 95 Q>E No Ensembl
rs2133989835 95 Q>L No Ensembl
rs367794954 96 Y>* No ESP
TOPMed
gnomAD
rs2133989812 96 Y>D No Ensembl
rs1851270783 96 Y>F No Ensembl
rs2133989812 96 Y>H No Ensembl
rs2133989812 96 Y>N No Ensembl
rs1851270783 96 Y>S No Ensembl
rs2133989777 97 R>G No Ensembl
rs2133989766 97 R>K No Ensembl
rs2133989766 97 R>M No Ensembl
rs761460872 97 R>S No ExAC
gnomAD
rs2133989766 97 R>T No Ensembl
rs2133989777 97 R>W No Ensembl
rs751137946 98 E>* No ExAC
gnomAD
rs1230645747 98 E>D No TOPMed
gnomAD
rs2133988071 98 E>G No Ensembl
rs751137946 98 E>Q No ExAC
gnomAD
rs2133988071 98 E>V No Ensembl
rs1851251123 99 Q>* No Ensembl
rs1851251123 99 Q>K No Ensembl
rs2133988027 99 Q>L No Ensembl
rs2133987991 100 I>F No Ensembl
rs2133987967 100 I>M No Ensembl
rs2133987981 100 I>N No Ensembl
rs2133987981 100 I>T No Ensembl
rs2133987991 100 I>V No Ensembl
rs2133987960 101 K>* No Ensembl
rs1444431226 101 K>N No gnomAD
rs1131691997 101 K>T No TOPMed
gnomAD
rs1057517913 102 R>G No TOPMed
gnomAD
rs2133987910
COSM1188104
COSM1188105
 102 R>L lung [Cosmic] No cosmic curated
Ensembl
rs2133987910 102 R>P No Ensembl
rs2133987910 102 R>Q No Ensembl
rs2133987869 104 K>* No Ensembl
rs2133987869 104 K>E No Ensembl
rs2133987856 104 K>M No Ensembl
rs2133987856 104 K>R No Ensembl
rs2133987832 105 D>A No Ensembl
rs1229925274 105 D>E No gnomAD
rs2133987832 105 D>G No Ensembl
rs1274939921 105 D>H No gnomAD
rs2133987832 105 D>V No Ensembl
rs2133987802 106 S>T No Ensembl
rs2133987750 107 D>E No Ensembl
rs2133987770 107 D>H No Ensembl
rs2133987770 107 D>N No Ensembl
rs2133987770 107 D>Y No Ensembl
rs2133987715 108 D>A No Ensembl
rs770260347 108 D>E No ExAC
TOPMed
gnomAD
rs2133987715 108 D>G No Ensembl
rs2133987735 108 D>H No Ensembl
rs2133987735 108 D>N No Ensembl
rs2133987715 108 D>V No Ensembl
rs1851248879 109 V>E No gnomAD
rs1851248879 109 V>G No gnomAD
rs1342261234 109 V>L No gnomAD
rs1342261234 109 V>M No gnomAD
rs2133987662 110 P>A No Ensembl
rs1204223913 110 P>H No gnomAD
rs1204223913 110 P>R No gnomAD
rs2133987662 110 P>S No Ensembl
rs2133987609 111 M>I No Ensembl
rs771447288 111 M>V No ExAC
TOPMed
gnomAD
rs1427823770 112 V>G No gnomAD
rs1170748930 112 V>L No gnomAD
rs1170748930 112 V>M No gnomAD
rs1389645747 113 L>P No gnomAD
rs1389645747 113 L>Q No gnomAD
rs2133987555 113 L>V No Ensembl
rs1163968308 114 V>L No gnomAD
rs1163968308 114 V>M No gnomAD
rs2133987473 115 G>A No Ensembl
rs2133987473 115 G>E No Ensembl
rs917210997 115 G>R No TOPMed
rs2133987473 115 G>V No Ensembl
rs2133987434 116 N>I No Ensembl
rs2133987418 116 N>K No Ensembl
rs2133987434 116 N>S No Ensembl
rs2133987434 116 N>T No Ensembl
rs2133987405
COSM505
 117 K>E haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs104894227 117 K>M No Ensembl
rs1851246168
COSM254734
COSM304967
COSM254733
COSM1237677
 117 K>N thyroid urinary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
TOPMed
rs2133987343 118 C>* No Ensembl
rs2133987365 118 C>G No Ensembl
rs2133987351 118 C>S No Ensembl
rs2133987365 118 C>S No Ensembl
rs2133987351 118 C>Y No Ensembl
rs111352454 119 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs397517139 120 L>M No ExAC
TOPMed
gnomAD
TCGA novel 120 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2133987303 120 L>Q No Ensembl
rs2133987303 120 L>R No Ensembl
COSM3359463
COSM3359462
rs397517139
 120 L>V kidney [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs376667492 121 A>G No ESP
ExAC
TOPMed
gnomAD
rs1851245429 121 A>P No Ensembl
rs1851245429 121 A>S No Ensembl
rs376667492 121 A>V No ESP
ExAC
TOPMed
gnomAD
rs779711606 122 A>E No ExAC
gnomAD
rs779711606 122 A>G No ExAC
gnomAD
rs1851244921 122 A>T No Ensembl
rs369106578 123 R>C No ESP
ExAC
TOPMed
gnomAD
rs730880464 123 R>L No ExAC
TOPMed
gnomAD
rs1851243906 124 T>A No Ensembl
rs1851243777 124 T>I No Ensembl
rs1851243906 124 T>P No Ensembl
rs1851243777 124 T>S No Ensembl
rs1851243906 124 T>S No Ensembl
rs981155119 125 V>A No TOPMed
rs981155119 125 V>E No TOPMed
rs981155119 125 V>G No TOPMed
rs2133987123 125 V>L No Ensembl
rs2133987123 125 V>M No Ensembl
rs763754805 126 E>* No ExAC
TOPMed
gnomAD
rs397517140 126 E>D No 1000Genomes
ExAC
gnomAD
rs763754805 126 E>K No ExAC
TOPMed
gnomAD
rs1221709596 127 S>A No TOPMed
rs2133987043 127 S>C No Ensembl
rs2133987043 127 S>F No Ensembl
rs1221709596 127 S>P No TOPMed
rs1221709596 127 S>T No TOPMed
TCGA novel 127 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1350889077 128 R>G No gnomAD
rs1350889077 128 R>W No gnomAD
rs2133986980 129 Q>* No Ensembl
rs2133986980 129 Q>E No Ensembl
rs2133986948 129 Q>H No Ensembl
rs1851242529 129 Q>L No Ensembl
rs2133986932 130 A>G No Ensembl
COSM4825382
rs1564788957
COSM4825383
 130 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs376688893 131 Q>* No ESP
ExAC
TOPMed
gnomAD
rs376688893 131 Q>E No ESP
ExAC
TOPMed
gnomAD
rs2133986872 131 Q>H No Ensembl
rs376688893 131 Q>K No ESP
ExAC
TOPMed
gnomAD
rs765495099 131 Q>L No ExAC
rs765495099 131 Q>R No ExAC
rs975107534 132 D>E No TOPMed
rs2133986850 132 D>G No Ensembl
rs759893630 132 D>N No ExAC
TOPMed
gnomAD
rs2133986850 132 D>V No Ensembl
rs776888712 133 L>F No ExAC
TOPMed
gnomAD
rs776888712 133 L>I No ExAC
TOPMed
gnomAD
rs766801436 133 L>P No ExAC
TOPMed
gnomAD
rs397517141 134 A>D No Ensembl
rs397517141 134 A>G No Ensembl
rs1389157073 134 A>P No TOPMed
gnomAD
COSM327243
COSM327242
rs1389157073
 134 A>S haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1389157073 134 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM1729837
rs772211333
COSM1729838
 135 R>* liver [Cosmic] No cosmic curated
ExAC
gnomAD
rs772211333 135 R>G No ExAC
gnomAD
rs1473091760 135 R>P No gnomAD
rs748289593 136 S>I No ExAC
gnomAD
rs2133986691 136 S>R No Ensembl
rs2133986711 136 S>R No Ensembl
rs748289593 136 S>T No ExAC
gnomAD
rs1471385417 137 Y>* No gnomAD
rs1180561549 137 Y>C No TOPMed
gnomAD
rs1180561549 137 Y>F No TOPMed
gnomAD
rs2133986680 137 Y>H No Ensembl
rs2133986680 137 Y>N No Ensembl
rs1554884772 138 G>A No Ensembl
rs397517142 138 G>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs397517142 138 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs397517142 138 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs2133986598 139 I>F No Ensembl
rs2133986598 139 I>L No Ensembl
rs2133986571 139 I>M No Ensembl
rs2133986586 139 I>T No Ensembl
rs144001095 140 P>A No ESP
ExAC
TOPMed
gnomAD
rs745637518 140 P>H No ExAC
gnomAD
rs745637518 140 P>R No ExAC
gnomAD
rs144001095 140 P>S No ESP
ExAC
TOPMed
gnomAD
rs144001095 140 P>T No ESP
ExAC
TOPMed
gnomAD
rs2133986520 141 Y>D No Ensembl
rs372048612 141 Y>F No ESP
gnomAD
rs2133986520 141 Y>H No Ensembl
rs2133986520 141 Y>N No Ensembl
rs372048612 141 Y>S No ESP
gnomAD
rs1564788848 142 I>F No Ensembl
rs1564788848 142 I>L No Ensembl
rs2133986466 142 I>N No Ensembl
rs1564788848 142 I>V No Ensembl
rs909222512 143 E>* No TOPMed
gnomAD
COSM3670785
rs909222512
COSM3670786
 143 E>K Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs909222512 143 E>Q No TOPMed
gnomAD
rs2133986432 143 E>V No Ensembl
rs2133986406
TCGA novel
 144 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2133986379 144 T>I No Ensembl
rs2133986406 144 T>P No Ensembl
rs2133986379 144 T>S No Ensembl
rs2133986406 144 T>S No Ensembl
rs2133986343 145 S>* No Ensembl
rs2133986343 145 S>L No Ensembl
rs2133986354 145 S>P No Ensembl
rs2133986354 145 S>T No Ensembl
rs2133986343 145 S>W No Ensembl
rs121917759 146 A>D No Ensembl
rs121917759 146 A>G No Ensembl
rs104894231 146 A>P No Ensembl
rs104894231 146 A>S No Ensembl
rs1432150876 147 K>* No TOPMed
gnomAD
rs2133986257 147 K>M No Ensembl
rs777386438 147 K>N No ExAC
TOPMed
gnomAD
rs2133986257 147 K>R No Ensembl
rs2133986217 148 T>A No Ensembl
rs1851235958 148 T>N No TOPMed
rs2133986217 148 T>P No Ensembl
rs1851235958 148 T>S No TOPMed
rs2133986217 148 T>S No Ensembl
rs1554884750 149 R>G No TOPMed
rs2133986147 149 R>L No Ensembl
rs2133986147 149 R>P No Ensembl
rs2133986147 149 R>Q No Ensembl
rs1554884750 149 R>W No TOPMed
rs1064796999 150 Q>* No Ensembl
rs1064796999 150 Q>E No Ensembl
rs2133986105 150 Q>H No Ensembl
rs1064796999 150 Q>K No Ensembl
rs2133986116 150 Q>R No Ensembl
rs2133982641 152 V>G No Ensembl
rs1434040739 154 D>G No TOPMed
gnomAD
rs745497215 154 D>H No ExAC
TOPMed
gnomAD
rs1269551105 155 A>D No gnomAD
rs770648642
RCV001563014
 156 F>L No ClinVar
ExAC
dbSNP
gnomAD
rs587778400 158 T>R No gnomAD
rs2133982462 159 L>M No Ensembl
rs1564787934 163 I>V No TOPMed
rs2133982339 165 Q>* No Ensembl
rs2133982327 165 Q>H No Ensembl
rs766474932 168 L>V No ExAC
gnomAD
rs151229168 169 R>G No ESP
ExAC
TOPMed
gnomAD
rs397517143 170 K>N No ExAC
TOPMed
gnomAD
TCGA novel 172 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1171786943 173 P>R No gnomAD
rs2133982179 175 D>E No Ensembl
rs2133982163 177 S>R No Ensembl
rs1191074796 177 S>T No gnomAD
rs1445835026 178 G>C No gnomAD
TCGA novel 180 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1851175904 180 G>V No Ensembl
rs2133982060 181 C>W No Ensembl
rs1589789436 184 C>G No Ensembl
rs2133981976 188 L>P No Ensembl
rs2133981937 190 S>C No Ensembl

6 associated diseases with P01112

[MIM: 218040]: Costello syndrome (CSTLO)

A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 218040]: Congenital myopathy with excess of muscle spindles (CMEMS)

Variant of Costello syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 188470]: Thyroid cancer, non-medullary, 2 (NMTC2)

A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 109800]: Bladder cancer (BLC)

A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 163200]: Schimmelpenning-Feuerstein-Mims syndrome (SFM)

A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • Variant of Costello syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for P01112

Type Name Position InterPro Accession
domain Protein kinase domain 317 - 590 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 318 - 583 IPR001245
domain WIF domain 47 - 180 IPR003306
active_site Tyrosine-protein kinase, active site 448 - 460 IPR008266
domain Tyrosine-protein kinase, catalytic domain 317 - 583 IPR020635

Functions

Description
EC Number 3.6.5.2 Acting on GTP; involved in cellular and subcellular movement
Subcellular Localization
  • Cell membrane; Lipid-anchor; Cytoplasmic side
  • Golgi apparatus
  • Golgi apparatus membrane; Lipid-anchor
  • The active GTP-bound form is localized most strongly to membranes than the inactive GDP-bound form (By similarity)
  • Shuttles between the plasma membrane and the Golgi apparatus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
GTPase complex A protein complex which is capable of GTPase activity.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name Definition
G protein activity A molecular function regulator that cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular processes. Intrinsic GTPase activity returns the G protein to its GDP-bound state. The return to the GDP-bound state can be accelerated by the action of a GTPase-activating protein (GAP).
GDP binding Binding to GDP, guanosine 5'-diphosphate.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction
protein-membrane adaptor activity The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle.

47 GO annotations of biological process

Name Definition
adipose tissue development The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat.
animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
cellular response to gamma radiation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum.
cellular senescence A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
defense response to protozoan Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism.
endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle.
fibroblast proliferation The multiplication or reproduction of fibroblast cells, resulting in the expansion of the fibroblast population.
insulin receptor signaling pathway The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
intrinsic apoptotic signaling pathway The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers
myelination The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of GTPase activity Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
negative regulation of neuron apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
neuron apoptotic process Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
oncogene-induced cell senescence A cellular senescence process associated with the dismantling of a cell as a response to oncogenic stress, such as the activation of the Ras oncogenic family.
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of fibroblast proliferation Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of GTPase activity Any process that activates or increases the activity of a GTPase.
positive regulation of JNK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of MAP kinase activity Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of miRNA metabolic process Any process that activates or increases the frequency, rate or extent of miRNA metabolic process.
positive regulation of phospholipase C activity Any process that increases the rate of phospholipase C activity.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of protein targeting to membrane Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein.
positive regulation of ruffle assembly Any process that activates or increases the frequency, rate or extent of ruffle assembly.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of type II interferon production Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.
Ras protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of actin cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of long-term neuronal synaptic plasticity A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane Any process that modulates the frequency, rate or extent of neurotransmitter receptor localization to postsynaptic specialization membrane.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
Schwann cell development The process aimed at the progression of a Schwann cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
T cell receptor signaling pathway The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.
T-helper 1 type immune response An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin.

34 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P08642 HRAS GTPase HRas Gallus gallus (Chicken) SS
Q6T310 RASL11A Ras-like protein family member 11A Homo sapiens (Human) PR
Q8IYK8 REM2 GTP-binding protein REM 2 Homo sapiens (Human) PR
P55040 GEM GTP-binding protein GEM Homo sapiens (Human) PR
Q6IQ22 RAB12 Ras-related protein Rab-12 Homo sapiens (Human) PR
Q9BU20 CPLANE2 Ciliogenesis and planar polarity effector 2 Homo sapiens (Human) PR
Q96HU8 DIRAS2 GTP-binding protein Di-Ras2 Homo sapiens (Human) PR
P62070 RRAS2 Ras-related protein R-Ras2 Homo sapiens (Human) PR
P11234 RALB Ras-related protein Ral-B Homo sapiens (Human) PR
P11233 RALA Ras-related protein Ral-A Homo sapiens (Human) PR
Q99578 RIT2 GTP-binding protein Rit2 Homo sapiens (Human) PR
P01116 KRAS GTPase KRas Homo sapiens (Human) EV
Q9JIW9 Ralb Ras-related protein Ral-B Mus musculus (Mouse) PR
P32883 Kras GTPase KRas Mus musculus (Mouse) SS
O08989 Mras Ras-related protein M-Ras Mus musculus (Mouse) PR
Q5PR73 Diras2 GTP-binding protein Di-Ras2 Mus musculus (Mouse) PR
Q91Z61 Diras1 GTP-binding protein Di-Ras1 Mus musculus (Mouse) PR
P62071 Rras2 Ras-related protein R-Ras2 Mus musculus (Mouse) PR
P35283 Rab12 Ras-related protein Rab-12 Mus musculus (Mouse) PR
Q08AT1 Rasl12 Ras-like protein family member 12 Mus musculus (Mouse) PR
A2A825 Cplane2 Ciliogenesis and planar polarity effector 2 Mus musculus (Mouse) PR
P55041 Gem GTP-binding protein GEM Mus musculus (Mouse) PR
P70425 Rit2 GTP-binding protein Rit2 Mus musculus (Mouse) PR
Q8VEL9 Rem2 GTP-binding protein REM 2 Mus musculus (Mouse) PR
Q61411 Hras GTPase HRas Mus musculus (Mouse) SS
P36860 Ralb Ras-related protein Ral-B Rattus norvegicus (Rat) PR
P08644 Kras GTPase KRas Rattus norvegicus (Rat) SS
Q9WTY2 Rem2 GTP-binding protein REM 2 Rattus norvegicus (Rat) PR
Q5BJQ5 Rit2 GTP-binding protein Rit2 Rattus norvegicus (Rat) PR
P97538 Mras Ras-related protein M-Ras Rattus norvegicus (Rat) PR
P20171 Hras GTPase HRas Rattus norvegicus (Rat) SS
B7ZTR0 cplane2 Ciliogenesis and planar polarity effector 2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
P79737 nras GTPase NRas Danio rerio (Zebrafish) (Brachydanio rerio) SS
A1DZY4 zgc:110179 Ras-like protein family member 11A-like Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MTEYKLVVVG AGGVGKSALT IQLIQNHFVD EYDPTIEDSY RKQVVIDGET CLLDILDTAG
70 80 90 100 110 120
QEEYSAMRDQ YMRTGEGFLC VFAINNTKSF EDIHQYREQI KRVKDSDDVP MVLVGNKCDL
130 140 150 160 170 180
AARTVESRQA QDLARSYGIP YIETSAKTRQ GVEDAFYTLV REIRQHKLRK LNPPDESGPG
CMSCKCVLS