Q86YR7

SS
Gene name
MCF2L2 (ARHGEF22, DRG, KIAA0861)
Protein name
Probable guanine nucleotide exchange factor MCF2L2
Names
Dbs-related Rho family guanine nucleotide exchange factor , MCF2-transforming sequence-like protein 2
Species
Homo sapiens (Human)
KEGG Pathway
hsa:23101
EC number
Protein Class

Descriptions

MCF2 protein is the prototype member of a large family of guanine nucleotide exchange factors (GEFs) that modulates the Rho family of GTPases. Removal of the N-terminal region results in a significant increase of MCF2 activity. Specifically, the autoinhibitory region binds to the PH domain, and limits the access of Rho GTPases to the catalytic DH domain and masks the intracellular targeting function of the PH domain.

Autoinhibitory domains (AIDs)

388-450 (Autoinhibitory region) SS

Target domain

834-956 (PH domain)

Relief mechanism

Cleavage

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q86YR7

Entry ID Method Resolution Chain Position Source
AF-Q86YR7-F1 Predicted AlphaFoldDB

1227 variants for Q86YR7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1317207544 2 L>P No gnomAD
rs151195961 3 S>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767891533 4 C>* No ExAC
TOPMed
gnomAD
rs1716262166 4 C>R No TOPMed
rs1444820047 5 L>* No gnomAD
rs959991069 6 K>E No TOPMed
gnomAD
rs959991069 6 K>Q No TOPMed
gnomAD
TCGA novel 7 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1031965495 7 E>G No TOPMed
gnomAD
rs1351673598 9 M>I No TOPMed
gnomAD
rs759999367 10 P>A No ExAC
TOPMed
gnomAD
rs1164838088 10 P>L No TOPMed
gnomAD
rs759999367 10 P>S No ExAC
TOPMed
gnomAD
rs774928082 11 P>A No ExAC
TOPMed
gnomAD
rs774928082 11 P>S No ExAC
TOPMed
gnomAD
rs1253993784 12 Q>* No gnomAD
rs1178813678 12 Q>R No gnomAD
rs1028486167 13 E>D No Ensembl
rs1483270478 13 E>G No gnomAD
rs904353120 14 L>F No TOPMed
gnomAD
rs762518014 15 T>I No ExAC
TOPMed
gnomAD
rs762518014 15 T>N No ExAC
TOPMed
gnomAD
rs771398468 15 T>P No ExAC
gnomAD
rs772638140 16 R>G No ExAC
TOPMed
gnomAD
COSM4843874 16 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1438596829 16 R>Q No TOPMed
gnomAD
rs772638140 16 R>W No ExAC
TOPMed
gnomAD
rs1245600958 17 R>P No TOPMed
gnomAD
rs1245600958
COSM1633010
 17 R>Q liver [Cosmic] No cosmic curated
TOPMed
gnomAD
rs769548073 18 L>V No ExAC
gnomAD
rs1230721373 19 A>G No TOPMed
gnomAD
rs1716258047 19 A>P No TOPMed
rs1230721373 19 A>V No TOPMed
gnomAD
rs781090515 20 T>A No ExAC
gnomAD
rs781090515 20 T>P No ExAC
gnomAD
TCGA novel 20 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768574033 21 V>G No ExAC
TOPMed
gnomAD
TCGA novel 23 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780031628 24 H>N No ExAC
gnomAD
rs758337289 24 H>Q No ExAC
gnomAD
rs1716256923 24 H>R No Ensembl
rs780031628 24 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM258845 26 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs755178461 27 E>D No ExAC
gnomAD
rs61752076 29 M>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 30 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1443254111 30 Q>P No TOPMed
gnomAD
rs780396518 31 Q>* No ExAC
TOPMed
gnomAD
rs1553793407 33 V>A No TOPMed
rs1212482582 33 V>F No TOPMed
gnomAD
rs1451700275 35 P>L No gnomAD
rs758699205 35 P>S No ExAC
TOPMed
gnomAD
rs1208034931 38 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1714036433 39 V>G No Ensembl
rs765831772 39 V>M No ExAC
TOPMed
gnomAD
TCGA novel
rs1288817462
 40 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1426291190 41 I>K No TOPMed
rs1173454069 41 I>V No TOPMed
gnomAD
rs757882900 42 I>L No ExAC
TOPMed
gnomAD
rs763539709 42 I>M No ExAC
TOPMed
gnomAD
rs753379446
COSM3427371
 42 I>T large_intestine [Cosmic] No cosmic curated
ExAC
gnomAD
rs1714035366
COSM1041790
 43 E>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1560053256 44 Q>H No TOPMed
gnomAD
rs372319976 45 L>V No ESP
ExAC
TOPMed
gnomAD
rs144122281 46 H>D No ESP
ExAC
TOPMed
gnomAD
rs1322946618 46 H>Q No gnomAD
rs1340192190 46 H>R No gnomAD
rs144122281 46 H>Y No ESP
ExAC
TOPMed
gnomAD
rs1560053236 47 R>G No TOPMed
rs1714034072 48 Q>R No gnomAD
rs759314794 49 F>L No ExAC
TOPMed
gnomAD
rs1714033766 50 A>V No Ensembl
COSM3915440 52 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3427370 52 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1714033447 54 G>R No TOPMed
gnomAD
rs1171293768 55 G>S No gnomAD
COSM176605
rs1450813503
 56 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2108587045 57 G>E No Ensembl
COSM1041789 57 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3774755 58 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1229135999 59 D>V No TOPMed
gnomAD
rs1713385019 59 D>Y No Ensembl
rs766191962
COSM1041788
 60 G>D Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1041787
rs773032244
 61 A>T liver Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769824895 63 I>T No ExAC
gnomAD
rs1311324397 64 I>L No TOPMed
gnomAD
rs1311324397 64 I>V No TOPMed
gnomAD
rs200353022 65 T>K No ESP
ExAC
TOPMed
gnomAD
rs200353022 65 T>M No ESP
ExAC
TOPMed
gnomAD
rs1344449821 66 F>Y No gnomAD
rs753031920 67 P>L No gnomAD
COSM3915439 68 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1713382254 69 F>Y No Ensembl
COSM3330088
rs529572628
 70 S>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1713381758 71 G>A No Ensembl
rs2108586954 73 K>E No Ensembl
rs1449225012 73 K>R No gnomAD
rs1358894787 75 I>M No gnomAD
rs975504370 75 I>V No TOPMed
rs771430349 76 P>A No ExAC
gnomAD
COSM232610
rs771430349
 76 P>S skin [Cosmic] No cosmic curated
ExAC
gnomAD
rs964229584 77 D>H No TOPMed
COSM3590523 78 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778129942 81 L>R No ExAC
gnomAD
rs780774990
TCGA novel
 84 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
TOPMed
gnomAD
rs752123815 84 M>L No ExAC
TOPMed
gnomAD
rs752123815 84 M>V No ExAC
TOPMed
gnomAD
rs1387663817 86 Y>C No TOPMed
gnomAD
rs1713378595 89 S>G No TOPMed
TCGA novel 89 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754584895 89 S>N No ExAC
rs751217953 89 S>R No ExAC
gnomAD
rs1209046949 90 I>V No TOPMed
gnomAD
rs1288709567 91 P>S No TOPMed
gnomAD
rs1226784408 92 S>G No TOPMed
gnomAD
rs750295946 92 S>N No ExAC
TOPMed
gnomAD
rs368709692 92 S>R No TOPMed
gnomAD
rs1223005909 94 E>D No gnomAD
rs1334749575 96 A>T No gnomAD
COSM1421205 96 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377129962 97 S>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377129962 97 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750159502 98 I>V No ExAC
gnomAD
rs1730698220 99 G>E No TOPMed
gnomAD
rs1730698220 99 G>V No TOPMed
gnomAD
rs1262963266 101 I>V No TOPMed
gnomAD
rs2108541750 102 V>I No Ensembl
rs2108541743 103 V>L No Ensembl
rs757105353 105 D>N No ExAC
TOPMed
gnomAD
COSM4115580 106 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753821786 106 R>S No ExAC
TOPMed
gnomAD
rs372912712 107 R>* No ESP
ExAC
TOPMed
gnomAD
rs1293584286 107 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs759675283 108 R>S No ExAC
gnomAD
rs201817406 109 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs774640716 109 D>G No ExAC
gnomAD
rs1457589022 110 K>E No gnomAD
rs763286902 112 S>N No ExAC
TOPMed
gnomAD
rs763286902 112 S>T No ExAC
TOPMed
gnomAD
rs139888934 114 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1730695434 116 A>V No TOPMed
rs1211072961 117 S>F No gnomAD
rs777104963
COSM208966
 117 S>P Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1211072961 117 S>Y No gnomAD
rs2108541655 118 L>* No Ensembl
rs2108541659 118 L>M No Ensembl
rs2108541646 119 T>A No Ensembl
rs769214520 119 T>I No ExAC
gnomAD
rs201535680 120 R>* No ESP
ExAC
TOPMed
gnomAD
rs201535680 120 R>G No ESP
ExAC
TOPMed
gnomAD
rs200321249 120 R>Q No 1000Genomes
ExAC
gnomAD
rs1313578161 121 I>T No gnomAD
rs377630816 124 A>V No ESP
ExAC
TOPMed
gnomAD
rs1730597122 125 F>L No TOPMed
rs1419114797
COSM3590521
 126 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
COSM3590522 126 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1560029064 128 N>S No Ensembl
rs1402582357 130 Q>* No gnomAD
rs1402582357 130 Q>E No gnomAD
rs113682563 130 Q>H No Ensembl
rs1434307844 134 I>N No TOPMed
gnomAD
rs1434307844 134 I>T No TOPMed
gnomAD
rs537201516
COSM1421203
 136 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1170552549 136 R>H No TOPMed
gnomAD
rs745456250 138 S>P No ExAC
gnomAD
rs778618941 139 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1041786
rs770556492
 139 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs770556492 139 R>L No ExAC
gnomAD
rs1207518110 140 F>C No TOPMed
gnomAD
rs1730594768 140 F>V No Ensembl
rs1363748919 142 Q>* No gnomAD
rs749060886 142 Q>R No ExAC
gnomAD
rs1209766741 144 T>A No gnomAD
rs1236017676 146 T>I No TOPMed
rs1730593900 146 T>S No Ensembl
rs1276235130 147 D>E No TOPMed
gnomAD
rs752684995 148 I>F No ExAC
gnomAD
rs1338734504 148 I>M No gnomAD
rs752684995 148 I>V No ExAC
gnomAD
rs758491545 150 I>N No ExAC
TOPMed
gnomAD
rs779938489 150 I>V No ExAC
TOPMed
gnomAD
rs750530870 151 K>N No ExAC
TOPMed
gnomAD
rs1414486918 152 Y>C No gnomAD
rs765465075 152 Y>H No ExAC
gnomAD
rs1730592787 153 Y>D No TOPMed
COSM208965
rs754151003
 154 R>* Variant assessed as Somatic; HIGH impact. large_intestine skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754151003 154 R>G No ExAC
TOPMed
gnomAD
rs761107247 154 R>L No ExAC
TOPMed
gnomAD
COSM1041785
rs761107247
 154 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4925311 158 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
VAR_043587
rs12632177
 159 T>M No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1418779469 160 K>E No gnomAD
rs1730591564 161 V>G No Ensembl
rs551044377 161 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1253690361 162 P>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs1730591330 162 P>L No TOPMed
gnomAD
rs141937357 162 P>S No ESP
ExAC
TOPMed
gnomAD
rs747921429 163 I>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs1050697404 163 I>V No Ensembl
rs945719882 164 I>T No gnomAD
rs1224632344 164 I>V No TOPMed
gnomAD
rs199619499 167 N>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1577063305 167 N>S No Ensembl
rs113604589 168 S>P No gnomAD
TCGA novel 169 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768587693 170 S>P No ExAC
gnomAD
rs778986832 172 L>V No ExAC
gnomAD
rs376645473 174 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs756372654 175 Y>* No ExAC
TOPMed
gnomAD
rs988345468 175 Y>C No TOPMed
gnomAD
rs988345468 175 Y>S No TOPMed
gnomAD
rs1729891294 176 I>V No TOPMed
rs1729890879 177 D>G No TOPMed
rs1265971265 177 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1464315879 178 K>T No TOPMed
rs767798481 181 L>V No ExAC
gnomAD
rs749322023 182 T>I No TOPMed
gnomAD
rs143828868 183 R>G No ESP
ExAC
TOPMed
gnomAD
rs375932530 183 R>Q No ESP
ExAC
TOPMed
gnomAD
rs143828868 183 R>W No ESP
ExAC
TOPMed
gnomAD
rs764961230 184 E>G No ExAC
gnomAD
rs776445954 186 G>E No ExAC
gnomAD
rs1729889156 186 G>R No gnomAD
rs1577063190 188 T>A No Ensembl
TCGA novel 188 T>D Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs746908799 188 T>N No ExAC
TOPMed
gnomAD
rs1289586723 189 L>S No gnomAD
rs1729888291 191 Y>H No TOPMed
rs775278339
COSM446053
 192 R>C Variant assessed as Somatic; MODERATE impact. central_nervous_system breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772064474 192 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1560021466 193 H>R No Ensembl
rs995431665 194 G>C No TOPMed
gnomAD
rs995431665
COSM1421201
 194 G>S Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1729887380 194 G>V No TOPMed
rs1456002493 195 Q>H No TOPMed
gnomAD
rs1394346081 196 W>* No gnomAD
rs1171693810 198 N>D No gnomAD
rs201315071 198 N>K No 1000Genomes
ExAC
gnomAD
COSM3590520 199 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1419598273 200 R>C No TOPMed
gnomAD
COSM4829265
rs1185481638
 200 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1185481638 200 R>P No TOPMed
gnomAD
rs1474205720 201 T>A No gnomAD
rs1729886181 201 T>N No TOPMed
rs1474205720 201 T>P No gnomAD
rs1157692451 202 A>T No TOPMed
gnomAD
rs1360216895 202 A>V No TOPMed
gnomAD
rs781263346 203 I>V No ExAC
TOPMed
gnomAD
rs983703431 204 E>* No TOPMed
gnomAD
TCGA novel 204 E>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs983703431 204 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1729677776 205 N>K No TOPMed
gnomAD
rs1373907541 207 A>V No gnomAD
TCGA novel 209 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1577059957 209 T>P No Ensembl
rs1729677119 214 A>V No TOPMed
rs747308675 215 Q>E No ExAC
COSM1214701
rs758933965
 219 T>M kidney large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs778506952 220 F>S No ExAC
gnomAD
rs1163171948 221 G>E No TOPMed
gnomAD
rs1421270630 222 S>A No gnomAD
rs1729675531 223 C>R No Ensembl
rs1729675409 224 L>R No TOPMed
rs374259099 229 L>P No ESP
ExAC
gnomAD
rs41435848 230 P>R No Ensembl
COSM4115579 230 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1186877175 231 R>G No gnomAD
COSM479773
rs1560019087
 232 S>G kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs763624477 232 S>N No ExAC
TOPMed
TCGA novel 232 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs760425218 233 M>V No ExAC
gnomAD
COSM1041782 234 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs964725424 234 L>P No TOPMed
gnomAD
rs1271531761 235 S>F No TOPMed
gnomAD
rs759404985 236 T>M No ExAC
TOPMed
gnomAD
rs2108515944 238 D>E No Ensembl
rs770965711 238 D>V No ExAC
TOPMed
gnomAD
rs1389590527 239 L>F No gnomAD
rs1325956505 241 M>L No gnomAD
rs761764748 241 M>T No ExAC
TOPMed
gnomAD
rs1325956505 241 M>V No gnomAD
rs2108515925 242 S>F No Ensembl
rs1729672208 243 H>L No gnomAD
rs1401628922 245 R>G No TOPMed
gnomAD
rs772575576 247 R>Q No ExAC
TOPMed
gnomAD
rs140311278 247 R>W No ESP
ExAC
TOPMed
gnomAD
rs779560501 248 D>E No ExAC
TOPMed
gnomAD
rs368482840 251 Q>H No ESP
ExAC
TOPMed
gnomAD
rs746205326 252 D>V No ExAC
rs771294344 253 E>D No ExAC
TOPMed
gnomAD
rs774827910 253 E>K No ExAC
TOPMed
gnomAD
VAR_043588 254 L>P a colorectal cancer sample; somatic mutation [UniProt] No UniProt
rs1434618040 258 G>R No gnomAD
TCGA novel 260 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs370286593 260 Q>R No ESP
ExAC
gnomAD
rs777084879 262 T>A No ExAC
gnomAD
rs78167897 263 T>P No Ensembl
rs78167897 263 T>S No Ensembl
rs747718048 266 S>P No ExAC
gnomAD
rs201611728 267 C>R No ExAC
TOPMed
gnomAD
rs201611728 267 C>S No ExAC
TOPMed
gnomAD
rs1484628391 268 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1187012088 268 I>S No gnomAD
rs1277650589 269 Q>R No TOPMed
gnomAD
rs1318823708 271 P>L No TOPMed
rs1729387006 273 T>N No TOPMed
gnomAD
rs1402746696 274 K>E No gnomAD
rs2108510076 274 K>R No Ensembl
rs1195816338 275 C>* No gnomAD
rs145505385 275 C>Y No ESP
ExAC
TOPMed
gnomAD
rs751301915 277 N>D No ExAC
TOPMed
gnomAD
VAR_043589
rs13082605
 277 N>S No UniProt
Ensembl
dbSNP
rs1249182379 278 S>N No TOPMed
gnomAD
rs1729386069 278 S>R No TOPMed
rs1173520265 279 K>E No TOPMed
gnomAD
rs766224148 279 K>I No ExAC
gnomAD
rs1729385668 280 L>P No TOPMed
gnomAD
rs1729385531 281 N>S No gnomAD
rs1729385404 282 L>I No TOPMed
rs2108510030 283 N>H No Ensembl
COSM3774754 283 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1729385150 283 N>S No Ensembl
rs1335132280 284 Q>* No TOPMed
gnomAD
rs758202299 285 L>I No ExAC
gnomAD
rs765144363 286 E>Q No ExAC
gnomAD
rs983588089 287 N>S No TOPMed
gnomAD
rs1391968260 288 V>I No gnomAD
rs149727195 290 T>A No ESP
ExAC
gnomAD
rs1463184247 291 M>K No gnomAD
rs759861475 291 M>L No ExAC
TOPMed
gnomAD
rs759861475 291 M>V No ExAC
TOPMed
gnomAD
TCGA novel 292 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1396944302 293 R>G No TOPMed
gnomAD
rs751824213 295 L>F No ExAC
gnomAD
rs766570940 296 V>L No ExAC
gnomAD
rs763373994 297 Q>* No ExAC
TOPMed
gnomAD
rs904945497 299 D>G No TOPMed
gnomAD
rs1729350921 299 D>N No TOPMed
gnomAD
rs1729350646 300 E>A No TOPMed
rs770234899 301 T>A No ExAC
rs762334516 302 E>A No ExAC
TOPMed
gnomAD
rs768167519 304 A>G No ExAC
gnomAD
rs1729349641 306 S>G No TOPMed
rs1283935818 306 S>N No TOPMed
rs2108509328 307 H>D No Ensembl
rs2108509322 307 H>Q No Ensembl
rs1005499534 307 H>R No TOPMed
rs1729349287 308 F>V No Ensembl
rs1302844732 309 W>* No gnomAD
rs1729349042 309 W>R No gnomAD
rs1729348804 310 S>C No gnomAD
rs201626502 312 H>R No gnomAD
rs1729348520 314 L>P No gnomAD
rs952005379 316 L>P No TOPMed
rs1729348207 317 N>* No gnomAD
rs1729347947 318 Q>* No TOPMed
rs183495526 321 Q>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs1318679180 323 Q>* No TOPMed
gnomAD
rs1318679180 323 Q>E No TOPMed
gnomAD
rs1729347146 325 F>C No TOPMed
rs1729347146 325 F>S No TOPMed
rs377706762 326 E>K No ESP
ExAC
TOPMed
gnomAD
rs377706762 326 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1577053939 327 H>D No Ensembl
rs778873068 328 D>H No ExAC
TOPMed
gnomAD
COSM208963
rs778873068
 328 D>N Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753834882 330 C>G No ExAC
gnomAD
rs781366735 330 C>S No ExAC
gnomAD
rs781366735 330 C>Y No ExAC
gnomAD
rs1729345327 331 K>T No TOPMed
gnomAD
rs1453987805 335 A>S No Ensembl
rs1393539790 336 L>P No TOPMed
gnomAD
rs1393539790 336 L>R No TOPMed
gnomAD
rs754239254 337 D>N No ExAC
gnomAD
TCGA novel 339 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1263424968 340 L>R No gnomAD
rs1729279323 341 E>* No Ensembl
rs1165401921 342 E>A No gnomAD
rs1560014310 342 E>Q No gnomAD
rs149750553 345 E>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1045488667 347 T>I No TOPMed
rs1355104441 348 G>D No Ensembl
COSM1041781 348 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1409709362 349 I>V No gnomAD
rs1455091446 350 G>A No TOPMed
gnomAD
rs1384131133 350 G>R No gnomAD
rs775025927 351 D>G No ExAC
TOPMed
gnomAD
rs1237239931 351 D>N No gnomAD
rs200012354 352 S>N No 1000Genomes
ExAC
gnomAD
COSM4435131
rs774137199
 353 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1729276431 354 M>I No Ensembl
rs1343148908 354 M>V No gnomAD
rs781726415 356 V>M No ExAC
gnomAD
TCGA novel 356 V>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773160358 357 E>K No ExAC
gnomAD
rs2108507960 358 Q>R No Ensembl
VAR_043590
rs7639705
 359 I>L No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs918443619 361 K>T No TOPMed
rs1729275551 362 E>* No TOPMed
rs748038045 362 E>G No ExAC
gnomAD
COSM4115578 363 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1194388814 364 K>N No gnomAD
rs1729275130 364 K>R No TOPMed
gnomAD
rs1432780856 365 K>R No gnomAD
rs748576542 366 L>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1729274029 367 E>Q No TOPMed
rs746013324 368 E>A No ExAC
gnomAD
rs746013324 368 E>G No ExAC
gnomAD
TCGA novel 370 S>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1729273524 370 S>N No TOPMed
gnomAD
rs757523007 371 Q>* No ExAC
gnomAD
rs757523007 371 Q>E No ExAC
gnomAD
rs771101780 372 E>K No ExAC
gnomAD
rs986858106 373 P>L No gnomAD
rs912634426 373 P>S No TOPMed
gnomAD
rs912634426 373 P>T No TOPMed
gnomAD
rs749518144 374 L>V No ExAC
gnomAD
rs773833576 376 K>E No TOPMed
rs753174802 377 A>D No ExAC
gnomAD
rs376579136 377 A>T No ESP
ExAC
gnomAD
rs2108497407 378 Q>* No Ensembl
rs2293203
VAR_043591
 378 Q>L No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2293203 378 Q>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751070341 379 L>V No ExAC
gnomAD
rs1728765769 380 L>P No TOPMed
rs1728765298 381 A>G No TOPMed
rs1394057328 381 A>T No gnomAD
rs1728765298 381 A>V No TOPMed
rs1728764819 383 V>A No TOPMed
rs1466309757 383 V>F No gnomAD
rs1466309757 383 V>I No gnomAD
rs868713164 384 G>R No Ensembl
rs1423213556 385 D>A No gnomAD
rs1326785618 385 D>E No gnomAD
rs1728764494 385 D>Y No Ensembl
rs1289042340 386 Q>R No TOPMed
gnomAD
rs765988397 388 I>V No ExAC
TOPMed
gnomAD
rs1476072395 389 Q>* No TOPMed
gnomAD
rs1476072395 389 Q>E No TOPMed
gnomAD
rs1418401704 390 S>R No gnomAD
rs1728763216 391 H>R No gnomAD
rs1343192697 392 H>L No gnomAD
rs1026545387 392 H>Y No TOPMed
gnomAD
rs762633549 393 Y>F No ExAC
gnomAD
rs1252009400 394 A>E No TOPMed
gnomAD
rs1728762407 394 A>T No TOPMed
rs1252009400 394 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs993328396 396 D>G No TOPMed
gnomAD
rs993328396 396 D>V No TOPMed
gnomAD
rs765005895 399 R>G No ExAC
gnomAD
COSM3590519
rs1728761315
 400 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1255778017 400 P>S No gnomAD
TCGA novel 401 R>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM4115577
rs368970289
 401 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
NCI-TCGA
TOPMed
gnomAD
rs202029920 401 R>W No ESP
ExAC
TOPMed
gnomAD
rs776538962 403 V>L No ExAC
gnomAD
rs760637586 404 E>D No ExAC
rs774347631 405 L>I No ExAC
TOPMed
gnomAD
rs1339263795 405 L>P No TOPMed
gnomAD
rs774347631 405 L>V No ExAC
TOPMed
gnomAD
rs1447637159 407 H>D No gnomAD
rs1447637159 407 H>N No gnomAD
rs1188964552 408 L>F No TOPMed
gnomAD
rs770097181 411 D>N No ExAC
TOPMed
gnomAD
rs1728758870 413 I>F No TOPMed
rs1728758870 413 I>V No TOPMed
rs74891431 414 N>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1471747265 414 N>K No gnomAD
TCGA novel 415 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1181835459 415 G>E No gnomAD
COSM3784400
rs1365492903
 415 G>R pancreas [Cosmic] No cosmic curated
gnomAD
rs755466082 416 N>K No ExAC
TOPMed
gnomAD
rs148752650 417 K>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1215159417 417 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs780761688 418 K>Q No ExAC
gnomAD
COSM1670733
rs757974939
 420 W>* lung [Cosmic] No cosmic curated
ExAC
gnomAD
TCGA novel 420 W>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs144274760 421 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144274760 421 D>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1577042536 422 I>T No Ensembl
rs764772081 423 L>F No ExAC
TOPMed
gnomAD
rs1728756269 424 G>A No gnomAD
rs149581227 426 S>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1449447215 427 L>V No Ensembl
rs763881406 430 H>D No ExAC
gnomAD
rs930342547 432 Q>* No TOPMed
COSM6164157 432 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760549633 434 D>E No ExAC
gnomAD
rs1728755251 434 D>G No Ensembl
rs865883661 435 K>* No Ensembl
rs1414556303 436 V>F No gnomAD
COSM1421199 437 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769037946 438 Q>* No ExAC
TOPMed
gnomAD
rs2108492504 440 C>Y No Ensembl
rs1728553704 441 E>K No TOPMed
rs1476221688 443 G>* No gnomAD
rs776017101 443 G>V No ExAC
TOPMed
gnomAD
COSM3915438 446 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM729658 446 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1050538122 446 L>P No TOPMed
gnomAD
rs1288217410 447 L>* No TOPMed
gnomAD
rs1728552772 447 L>F No Ensembl
rs1431124070 448 A>T No TOPMed
gnomAD
rs772418125 449 S>C No ExAC
gnomAD
rs772418125
COSM3915437
 449 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
TCGA novel 450 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs746389821 452 V>I No ExAC
gnomAD
rs1728551769 453 D>E No Ensembl
rs1312846245 453 D>G No gnomAD
COSM6164158 455 C>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778229960 456 Q>* No ExAC
TOPMed
gnomAD
rs754136583 458 R>* No ExAC
TOPMed
gnomAD
rs754136583
COSM1308872
 458 R>G Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748817028 458 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1217806331 459 E>A No gnomAD
rs1577038349 461 V>G No Ensembl
rs2108492405 461 V>I No Ensembl
rs1728550387 462 D>H No Ensembl
rs777376600 463 I>T No ExAC
TOPMed
gnomAD
rs575598988 464 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs375339228 466 N>K No ESP
ExAC
TOPMed
gnomAD
rs781000309 467 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs751498476 468 I>L No ExAC
gnomAD
rs751498476 468 I>V No ExAC
gnomAD
rs138279265 469 A>G No ESP
ExAC
TOPMed
gnomAD
rs138279265 469 A>V No ESP
ExAC
TOPMed
gnomAD
rs1379520789 471 F>C No Ensembl
rs1728547578
COSM276025
 473 G>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs146349996 473 G>R No ESP
ExAC
TOPMed
gnomAD
rs146349996 473 G>S No ESP
ExAC
TOPMed
gnomAD
TCGA novel 474 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs775930835 475 V>G No ExAC
TOPMed
gnomAD
rs968356919 476 K>E No Ensembl
rs772500113 477 E>K No ExAC
TOPMed
gnomAD
rs114636302 479 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114636302 479 P>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1345733761 480 L>F No TOPMed
gnomAD
rs1459217683 481 L>I No gnomAD
rs1728545763 481 L>R No Ensembl
rs994786366 483 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1392140886 484 K>E No Ensembl
rs192458775 484 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1193894302 485 E>D No TOPMed
gnomAD
rs1315831914 488 N>S No gnomAD
rs1294961136 489 E>* No TOPMed
gnomAD
rs1281123993 489 E>D No gnomAD
rs1294961136 489 E>K No TOPMed
gnomAD
rs960562642 491 E>K No TOPMed
gnomAD
rs760920979 495 T>I No ExAC
TOPMed
gnomAD
rs1728542893 496 L>F No Ensembl
COSM1537304
rs200226889
COSM6164159
 497 D>N lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1438011103 500 A>S No gnomAD
rs1438011103 500 A>T No gnomAD
COSM6097219 501 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs534012744 501 K>E No ExAC
gnomAD
rs1004647013 501 K>T No Ensembl
rs1228398950 502 A>G No TOPMed
gnomAD
rs1178144884 502 A>P No TOPMed
gnomAD
rs1228398950 502 A>V No TOPMed
gnomAD
rs1238819072 505 V>I No TOPMed
rs1238819072 505 V>L No TOPMed
rs1728443148 508 R>G No Ensembl
rs1025844130 508 R>S No TOPMed
rs752866845 510 D>G No ExAC
TOPMed
gnomAD
rs1728442595 511 D>G No gnomAD
rs1027348884 512 V>I No Ensembl
TCGA novel 513 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 514 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1263521179 514 E>Q No gnomAD
rs1728441873 515 I>L No gnomAD
rs767759131 515 I>T No ExAC
TOPMed
gnomAD
rs1177927133 516 F>L No TOPMed
rs755179605 519 R>S No ExAC
TOPMed
gnomAD
COSM3992886 520 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1728440574 522 S>R No Ensembl
rs1728440176 526 L>P No Ensembl
COSM1327688 526 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1331454875 527 A>V No Ensembl
rs1237349138 528 A>T No TOPMed
gnomAD
rs1301543281 529 K>R No TOPMed
gnomAD
rs1728439448 530 Q>E No TOPMed
gnomAD
rs374876253 531 T>I No ESP
ExAC
TOPMed
gnomAD
rs766661114 532 R>H No ExAC
gnomAD
COSM729660 532 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1402363614 533 P>L No TOPMed
gnomAD
rs1728438320 534 V>L No TOPMed
rs763397732 536 P>A No ExAC
gnomAD
TCGA novel 538 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773700134 540 H>R No ExAC
gnomAD
rs1417945976 541 P>T No gnomAD
rs201920674 544 S>* No gnomAD
rs201920674 544 S>L No gnomAD
rs1728436856 547 W>* No TOPMed
rs372792632 547 W>C No ESP
ExAC
TOPMed
gnomAD
TCGA novel 547 W>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1432873823 549 S>P No gnomAD
rs1195619547 550 S>L No gnomAD
rs761287436 550 S>P No ExAC
gnomAD
rs1488546357 551 K>R No gnomAD
rs776024697 552 T>A No ExAC
TOPMed
gnomAD
COSM3590516 552 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776024697 552 T>P No ExAC
TOPMed
gnomAD
rs1483942284 553 S>G No gnomAD
rs1258802195 553 S>R No TOPMed
rs899677954 554 Q>H No gnomAD
rs768313443 554 Q>R No ExAC
gnomAD
rs746644265 555 P>A No ExAC
TOPMed
gnomAD
rs1281728096 555 P>L No gnomAD
rs746644265 555 P>S No ExAC
TOPMed
gnomAD
rs1577036081 556 S>T No Ensembl
rs1298119612 557 T>A No TOPMed
gnomAD
rs1728433285 557 T>I No TOPMed
rs1298119612 557 T>S No TOPMed
gnomAD
rs139013045 558 S>L No ESP
ExAC
TOPMed
gnomAD
rs770954058 561 L>V No ExAC
TOPMed
gnomAD
rs1332927802 562 A>T No Ensembl
rs201525425
COSM276024
 563 R>C large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs560115451 563 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1325831386 564 P>L No TOPMed
rs768608653 565 L>R No ExAC
gnomAD
rs1194466101 565 L>V No gnomAD
rs370311977 567 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1335205029 569 E>G No TOPMed
gnomAD
rs140073703 572 Y>C No ESP
ExAC
TOPMed
gnomAD
rs779252085 572 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs754286976 573 T>M No ExAC
gnomAD
rs1391270328 574 E>D No gnomAD
COSM3590515 574 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1727972724 575 T>I No Ensembl
rs767219146 578 N>K No ExAC
gnomAD
rs1727971880 579 S>F No TOPMed
rs148186903 580 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201422972 580 R>Q No ExAC
TOPMed
gnomAD
rs148186903 580 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1438643264 581 G>R No TOPMed
gnomAD
rs1453327431 582 K>R No TOPMed
gnomAD
rs1727970383 583 E>D No Ensembl
rs1559999340 586 E>K No TOPMed
rs1727969998 587 T>P No TOPMed
TCGA novel 588 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762851532 588 K>R No ExAC
gnomAD
VAR_043592
rs3732602
 589 F>S No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs561396974 591 V>I No ExAC
gnomAD
rs1477834264 592 K>E No TOPMed
gnomAD
rs2108478890 592 K>N No Ensembl
rs61731401
COSM1580051
 593 S>N central_nervous_system [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371202664 594 E>V No ESP
ExAC
TOPMed
gnomAD
rs1560397674 598 E>D No Ensembl
rs1217346221 599 S>G No gnomAD
rs1577015533 600 H>R No Ensembl
rs762646974 601 H>P No ExAC
TOPMed
gnomAD
rs1727192250 601 H>Q No TOPMed
gnomAD
rs762646974 601 H>R No ExAC
TOPMed
gnomAD
rs1282308818 602 E>A No TOPMed
gnomAD
TCGA novel 602 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1409826387 603 R>S No TOPMed
gnomAD
rs145002633 603 R>T No ESP
ExAC
TOPMed
gnomAD
rs1346017322 604 G>E No gnomAD
rs1221479309 605 N>K No TOPMed
gnomAD
rs886601810 605 N>S No TOPMed
gnomAD
rs1472421713 605 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs886601810 605 N>T No TOPMed
gnomAD
rs1298733374 606 P>R No gnomAD
rs765019903 606 P>T No ExAC
gnomAD
rs761843820 607 E>V No ExAC
gnomAD
rs1577015469 608 L>Q No Ensembl
rs775500476 610 Q>* No ExAC
TOPMed
gnomAD
rs775500476 610 Q>K No ExAC
TOPMed
gnomAD
COSM1041778
rs1414640729
 612 A>S Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs991505594 612 A>V No TOPMed
gnomAD
rs1176088655 613 R>G No gnomAD
COSM6163815 615 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1421198
rs771241819
 615 G>R Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1039010295 616 D>G No Ensembl
rs900585499 616 D>H No TOPMed
gnomAD
rs900585499 616 D>N No TOPMed
gnomAD
TCGA novel 616 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749557610 617 L>P No ExAC
TOPMed
gnomAD
COSM232770 618 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201934832 618 S>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs1349320106 619 P>A No TOPMed
rs756535784 619 P>H No ExAC
TOPMed
gnomAD
rs756535784 619 P>L No ExAC
TOPMed
gnomAD
rs1349320106 619 P>S No TOPMed
COSM1214702
rs1349320106
 619 P>T large_intestine [Cosmic] No cosmic curated
TOPMed
COSM171073 620 R>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748684574 620 R>C No ExAC
TOPMed
gnomAD
rs200280939 620 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs200280939 620 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs374060740 621 R>G No ExAC
TOPMed
gnomAD
TCGA novel 621 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs752647498 622 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_043593
rs767614039
COSM32291
 622 R>H large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No cosmic curated
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs752647498 622 R>S No ExAC
TOPMed
gnomAD
rs1345550248 623 I>L No gnomAD
rs1271564218 624 I>L No TOPMed
rs199958134 625 R>C No ESP
ExAC
TOPMed
gnomAD
COSM1041770
rs759631846
 625 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM729663 625 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs199958134 625 R>S No ESP
ExAC
TOPMed
gnomAD
COSM6163817 626 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs866461582 632 E>D No gnomAD
rs1158850091 633 I>V No gnomAD
rs773712843 635 I>V No ExAC
TOPMed
gnomAD
COSM729664 636 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs146992443 637 E>D No ESP
ExAC
TOPMed
gnomAD
rs1481725512 637 E>K No gnomAD
rs781776113 638 I>T No ExAC
gnomAD
rs1450021121 639 K>E No gnomAD
rs1286606230 643 D>E No gnomAD
COSM4115572 644 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1041769
rs1220782601
 645 Y>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1723478737 645 Y>H No TOPMed
rs200702114 649 M>K No 1000Genomes
ExAC
gnomAD
rs200702114 649 M>T No 1000Genomes
ExAC
gnomAD
rs769060036 649 M>V No ExAC
TOPMed
gnomAD
rs774897883 650 D>E No ExAC
gnomAD
COSM1041768 652 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1723477803 653 W>* No TOPMed
rs771707628 655 K>R No ExAC
gnomAD
rs771707628 655 K>T No ExAC
gnomAD
COSM3590512 659 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1478970574 660 D>N No TOPMed
gnomAD
rs757040382 661 V>I No ExAC
TOPMed
gnomAD
rs977210047 662 L>F No TOPMed
gnomAD
rs966470389 663 Q>R No Ensembl
rs777708205 664 N>D No ExAC
TOPMed
gnomAD
rs777708205 664 N>Y No ExAC
TOPMed
gnomAD
rs376530912 665 N>S No ESP
ExAC
TOPMed
gnomAD
TCGA novel 666 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 667 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1723476375 667 D>N No TOPMed
rs751613772
COSM729665
 668 F>V lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1723476119 669 L>I No gnomAD
rs773508129 672 N>S No TOPMed
gnomAD
rs1723475460 673 I>T No gnomAD
rs147816644 673 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1351187706 674 R>G No TOPMed
COSM208959 675 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1723475238 677 Y>C No Ensembl
rs1439517800
COSM257387
 678 E>K Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1340264412 679 F>C No TOPMed
gnomAD
rs1340264412 679 F>S No TOPMed
gnomAD
rs750638823 682 R>G No ExAC
TOPMed
gnomAD
rs557421967 683 T>A No 1000Genomes
rs1293369547 683 T>N No TOPMed
gnomAD
rs756025663 685 L>Q No ExAC
gnomAD
rs1447298725 685 L>V No Ensembl
COSM4115571 687 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748009546 687 E>A No ExAC
gnomAD
rs781227017 687 E>D No ExAC
gnomAD
rs1376057122 688 L>* No gnomAD
TCGA novel 688 L>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs535591353 689 E>K No 1000Genomes
ExAC
gnomAD
rs765491438 690 K>N No ExAC
gnomAD
rs61753470 691 C>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61753470 691 C>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1425476581 692 A>T No gnomAD
COSM1041767 693 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs905031084 694 N>D No TOPMed
gnomAD
rs1723424145 698 L>P No TOPMed
rs754314047 699 A>V No TOPMed
gnomAD
rs761142616 700 H>Y No ExAC
gnomAD
rs2108668733 701 C>S No Ensembl
TCGA novel 701 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1723423262 704 K>N No Ensembl
rs949142987 705 R>G No Ensembl
COSM1041766 707 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1432618040 707 E>D No TOPMed
gnomAD
TCGA novel 708 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1723261674 709 L>I No TOPMed
gnomAD
rs1723261427 711 I>T No Ensembl
TCGA novel 712 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1327689 712 Y>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1560352023 712 Y>S No Ensembl
TCGA novel 713 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765849352 714 K>E No ExAC
gnomAD
rs1560352013 715 Y>H No Ensembl
rs1465508271 716 H>D No gnomAD
rs762560764 716 H>R No ExAC
TOPMed
gnomAD
rs1469280642 717 K>R No TOPMed
COSM1041765 717 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1723260455 719 L>M No TOPMed
rs1171918223 719 L>R No gnomAD
rs924103353 721 R>* No TOPMed
gnomAD
rs772732230 721 R>Q No ExAC
TOPMed
gnomAD
rs1449259233 724 A>T No TOPMed
rs1413677647 726 W>* No TOPMed
gnomAD
rs1186348222 727 Q>R No gnomAD
rs761451638 728 E>D No ExAC
gnomAD
rs545502341 728 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1421916118 729 C>G No TOPMed
rs1422348651 730 Q>E No TOPMed
gnomAD
rs1723258849 730 Q>H No gnomAD
rs145194746 733 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746924808 733 A>V No ExAC
gnomAD
TCGA novel 734 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1723258327 734 Y>C No Ensembl
rs535643817 735 F>L No 1000Genomes
ExAC
gnomAD
rs1343033349 736 G>R No gnomAD
rs1334267660 737 V>I No TOPMed
gnomAD
rs1334267660 737 V>L No TOPMed
gnomAD
rs781428915 740 R>C No ExAC
TOPMed
gnomAD
rs755328063
COSM1421195
 740 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1463541598 742 L>M No TOPMed
rs747428207 745 N>I No ExAC
TOPMed
gnomAD
rs747428207 745 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1426108230 747 P>H No TOPMed
gnomAD
rs1723215887
COSM5889946
 747 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs2108663236 752 L>R No Ensembl
rs749855768 753 K>R No ExAC
TOPMed
gnomAD
rs1723215105 754 G>R No Ensembl
rs1723214896 756 S>C No TOPMed
COSM1617250
rs764785366
 756 S>R liver [Cosmic] No cosmic curated
ExAC
gnomAD
rs756871836 757 Q>R No ExAC
gnomAD
rs1251098869 760 I>M No gnomAD
rs1723214275 760 I>T No TOPMed
rs1723213760 763 Q>E No Ensembl
rs1475255912 764 M>I No Ensembl
rs753537032 765 L>P No ExAC
gnomAD
rs1723213120 767 K>R No TOPMed
rs896491645 768 G>C No TOPMed
gnomAD
rs1327835346 768 G>D No gnomAD
TCGA novel 769 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs41443045 770 L>P No TOPMed
gnomAD
rs41443045 770 L>R No TOPMed
gnomAD
rs767317749 771 D>G No ExAC
gnomAD
rs752382981 771 D>H No ExAC
TOPMed
gnomAD
rs752382981 771 D>Y No ExAC
TOPMed
gnomAD
VAR_043594
rs9826325
 772 F>L No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs369196099 773 E>D No ESP
ExAC
TOPMed
gnomAD
COSM4828221
rs1172084949
 773 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs761822655 774 S>A No ExAC
gnomAD
COSM446052 774 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1723082627 777 D>N No gnomAD
COSM3590511 778 M>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1245992570 778 M>T No TOPMed
gnomAD
rs1723082293 778 M>V No Ensembl
rs1723082036 780 I>T No Ensembl
rs775615734 781 D>E No ExAC
TOPMed
gnomAD
rs760866201
COSM3427369
 781 D>G Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 781 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1723081657 782 P>L No TOPMed
rs375053168 783 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375053168 783 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1723081347 784 E>A No TOPMed
gnomAD
rs771573026 785 L>I No ExAC
gnomAD
rs771573026 785 L>V No ExAC
gnomAD
rs1351120580 786 G>E No TOPMed
rs1560349594 787 G>A No TOPMed
rs1560349594 787 G>D No TOPMed
rs1560349594 787 G>V No TOPMed
rs139327190 788 S>L No 1000Genomes
ESP
ExAC
gnomAD
TCGA novel 789 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3373097 790 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1409365883 791 D>V No gnomAD
rs747669962 792 G>V No ExAC
gnomAD
rs1722899774 793 P>T No Ensembl
rs780838264 794 K>E No ExAC
gnomAD
TCGA novel 794 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754589725 795 R>G No ExAC
gnomAD
rs746776164
COSM4839123
 795 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs146809971 796 T>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM69068 797 K>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371953746 797 K>Q No ESP
ExAC
TOPMed
gnomAD
rs1019835174 798 D>E No gnomAD
rs750356238 801 F>S No ExAC
gnomAD
COSM5431797 802 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1553883072 803 T>S No Ensembl
rs752728414 806 Q>* No ExAC
gnomAD
rs1231932830 808 A>G No TOPMed
gnomAD
rs1231932830 808 A>V No TOPMed
gnomAD
rs1020364697 809 L>F No Ensembl
rs767742664 810 A>S No ExAC
gnomAD
rs1722897712 811 V>M No Ensembl
rs1560346660 812 I>T No TOPMed
rs1722897600 812 I>V No Ensembl
rs1227847220 813 E>G No gnomAD
rs759702593 813 E>K No ExAC
TOPMed
gnomAD
TCGA novel
rs1722897079
 814 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1722896976 815 L>S No TOPMed
gnomAD
COSM729669 817 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1295472638 818 S>C No gnomAD
rs766816419 821 L>F No ExAC
TOPMed
gnomAD
COSM4115569
rs1722896564
 822 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1237215856 825 L>Q No TOPMed
rs763473528 829 T>A No ExAC
TOPMed
gnomAD
rs893129303 832 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1257768258 833 D>G No gnomAD
rs1485187394 833 D>N No gnomAD
rs771721027 834 D>G No ExAC
gnomAD
COSM4538108
rs775066440
 834 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771721027 834 D>V No ExAC
gnomAD
COSM729670 834 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778705721 835 I>T No ExAC
TOPMed
gnomAD
rs373775474 835 I>V No ESP
ExAC
TOPMed
gnomAD
rs770812158 837 K>N No ExAC
TOPMed
gnomAD
rs1469172001 839 G>D No TOPMed
gnomAD
rs1469172001 839 G>V No TOPMed
gnomAD
rs1381242574 840 K>Q No gnomAD
rs950037211 840 K>R No TOPMed
gnomAD
rs754995550 841 L>P No ExAC
gnomAD
rs199864733 844 H>Q No ESP
ExAC
TOPMed
gnomAD
rs917278134 844 H>R No Ensembl
rs751702407 844 H>Y No ExAC
gnomAD
rs146109625 845 G>R No ESP
ExAC
TOPMed
gnomAD
rs146109625 845 G>S No ESP
ExAC
TOPMed
gnomAD
rs2108648416 846 P>R No Ensembl
rs1722550907 846 P>S No TOPMed
gnomAD
rs750765432 848 S>R No ExAC
gnomAD
rs765489020 849 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1418534661 850 W>C No TOPMed
gnomAD
rs762307101 851 T>K No ExAC
TOPMed
gnomAD
rs762307101 851 T>R No ExAC
TOPMed
gnomAD
rs1722550069 852 I>V No TOPMed
rs1722549968 853 H>Q No TOPMed
TCGA novel 854 K>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1722549843 854 K>R No Ensembl
rs1722549506 855 D>G No gnomAD
rs1431019471 855 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs148585637
COSM3590510
 856 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1041761
rs139337758
 856 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1394996312 858 K>Q No TOPMed
gnomAD
rs1722548800 861 D>G No Ensembl
rs775017211 861 D>N No ExAC
TOPMed
gnomAD
COSM1041760 864 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771665921 864 R>G No ExAC
gnomAD
COSM245614
rs143903251
 864 R>L Variant assessed as Somatic; MODERATE impact. prostate haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM88600
rs143903251
 864 R>Q ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1266644859 869 Q>R No TOPMed
rs1722548005 870 R>K No TOPMed
gnomAD
rs1323330459 870 R>S No TOPMed
gnomAD
rs200848511 871 Q>E No gnomAD
rs1395416661 871 Q>R No gnomAD
TCGA novel 873 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1560341927 874 L>P No TOPMed
gnomAD
rs1262762826 875 F>C No TOPMed
gnomAD
rs1262762826 875 F>S No TOPMed
gnomAD
rs770625679 878 G>E No ExAC
gnomAD
rs770625679 878 G>V No ExAC
gnomAD
rs373983056 879 I>L No ESP
ExAC
TOPMed
gnomAD
rs373983056 879 I>V No ESP
ExAC
TOPMed
gnomAD
COSM4115568 880 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371031680 881 F>L No ESP
ExAC
TOPMed
gnomAD
rs138039237 882 C>F No ESP
ExAC
TOPMed
gnomAD
rs138039237 882 C>Y No ESP
ExAC
TOPMed
gnomAD
rs1032342709 883 K>E No TOPMed
gnomAD
rs1410996557 884 I>K No TOPMed
gnomAD
rs1020601123 885 R>* No TOPMed
gnomAD
rs780301597
COSM1041759
 885 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM3590509
rs1160815249
 886 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs750671287 886 M>V No ExAC
gnomAD
rs779255516 888 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1576922502 889 G>E No Ensembl
rs1722544850 889 G>R No Ensembl
rs199740627 890 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757506856 890 D>N No ExAC
TOPMed
gnomAD
rs1313018757 891 Q>* No TOPMed
gnomAD
rs373864637 894 S>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753254842 895 P>L No ExAC
gnomAD
rs551956783 895 P>T No Ensembl
rs1265834801 897 Y>C No gnomAD
rs369980908 898 S>G No ESP
ExAC
TOPMed
gnomAD
rs146962470 898 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1228460119 899 F>L No gnomAD
rs6804951
VAR_043595
 902 T>A No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs6804951 902 T>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs6804951 902 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773090121 903 M>R No ExAC
gnomAD
rs762583992 903 M>V No ExAC
gnomAD
rs1576920812 906 M>R* No Ensembl
rs1194053067 906 M>V No TOPMed
gnomAD
COSM446051 908 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1255019510 909 S>L No TOPMed
gnomAD
rs368389334 910 I>V No ESP
ExAC
TOPMed
gnomAD
rs61750384
COSM276023
 911 R>C large_intestine [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM5756222
rs781608777
 911 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781608777 911 R>L No ExAC
TOPMed
gnomAD
rs755536978 912 Q>E No ExAC
gnomAD
COSM3846836 912 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1722465204 913 L>P No TOPMed
rs1722465322 913 L>V No Ensembl
rs750983684 914 G>R No ExAC
TOPMed
gnomAD
rs746462556 915 R>K No ExAC
TOPMed
gnomAD
rs746462556 915 R>M No ExAC
TOPMed
gnomAD
COSM729671 915 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746462556 915 R>T No ExAC
TOPMed
gnomAD
rs1722464558 916 G>E No Ensembl
rs1722464680 916 G>R No TOPMed
rs757885513 918 H>R No ExAC
gnomAD
rs750078863 919 R>G No ExAC
TOPMed
gnomAD
rs2108646483 921 F>L No Ensembl
rs1299387141 922 E>Q No TOPMed
rs1722463487 923 I>M No Ensembl
rs761634270 923 I>T No ExAC
TOPMed
gnomAD
rs1475001628 924 A>D No TOPMed
gnomAD
rs372726793 924 A>T No ESP
ExAC
TOPMed
gnomAD
rs368802777 925 S>I No ESP
ExAC
TOPMed
gnomAD
rs368802777 925 S>T No ESP
ExAC
TOPMed
gnomAD
COSM1041758
rs1442450988
 926 R>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1442450988 926 R>G No TOPMed
gnomAD
COSM168465
rs1256220389
 926 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1560340532 928 G>E No Ensembl
rs547169741 930 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 931 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1352445918 936 A>P No gnomAD
rs1352445918 936 A>T No gnomAD
rs1441776453 937 A>D No gnomAD
rs763021059 937 A>P No ExAC
gnomAD
rs1012034997 939 K>R No Ensembl
COSM1041757 940 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2108646278 941 I>T No Ensembl
rs1325282351 944 C>F No gnomAD
rs769952121 945 W>* No ExAC
rs769952121 945 W>C No ExAC
rs1405806252 948 E>* No gnomAD
rs1044499909 950 S>N No TOPMed
rs1393623774 951 K>E No TOPMed
gnomAD
rs1393623774 951 K>Q No TOPMed
gnomAD
rs747349199 953 L>S No ExAC
gnomAD
TCGA novel 954 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1722452920 954 M>V No TOPMed
rs896842180 955 E>K No Ensembl
rs780543952 956 Q>* No ExAC
TOPMed
gnomAD
rs780543952 956 Q>K No ExAC
TOPMed
gnomAD
rs745323749 959 N>K No ExAC
TOPMed
gnomAD
rs143672408 959 N>Y No ESP
ExAC
TOPMed
gnomAD
COSM1308871 960 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1469238692 960 I>T No gnomAD
rs772537138 963 Q>K No ExAC
TOPMed
gnomAD
rs1223505483 963 Q>R No TOPMed
rs1722042225 964 G>E No TOPMed
rs746348490 965 N>S No ExAC
gnomAD
rs140534898 970 M>I No ESP
ExAC
TOPMed
gnomAD
rs770555517 971 S>T No ExAC
gnomAD
COSM3206559
rs755749537
 972 T>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs748823704 972 T>A No ExAC
gnomAD
rs371474687 972 T>K No ESP
ExAC
TOPMed
gnomAD
rs371474687 972 T>M No ESP
ExAC
TOPMed
gnomAD
TCGA novel 973 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1448792473 973 S>N No gnomAD
rs2108635594 974 K>N No Ensembl
COSM1421194 975 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754754655 976 S>N No ExAC
TOPMed
gnomAD
rs955989541 976 S>R No TOPMed
rs746819406 978 A>E No ExAC
gnomAD
rs746819406 978 A>G No ExAC
gnomAD
rs2108635583 980 S>C No Ensembl
COSM208951
rs146776367
 981 G>R large_intestine [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764050529 982 P>L No ExAC
gnomAD
rs143707041 982 P>S No ESP
ExAC
TOPMed
gnomAD
rs141274500 983 W>R No ESP
ExAC
TOPMed
gnomAD
rs1480806033 983 W>S No TOPMed
gnomAD
rs752853028 986 N>I No ExAC
TOPMed
gnomAD
TCGA novel 986 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759916921 987 M>T No ExAC
gnomAD
rs767869677 987 M>V No ExAC
gnomAD
rs1473470058 988 E>D No TOPMed
gnomAD
rs1323426069 988 E>G No TOPMed
gnomAD
TCGA novel 989 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1293892578 990 A>P No gnomAD
rs1232125820 992 T>N No TOPMed
gnomAD
rs1232125820 992 T>S No TOPMed
gnomAD
rs752000365 993 S>I No ExAC
TOPMed
gnomAD
rs752000365 993 S>N No ExAC
TOPMed
gnomAD
rs1721953450 993 S>R No Ensembl
rs766939202 994 K>R No ExAC
gnomAD
rs1397588001 996 D>G No gnomAD
rs763343794 997 P>L No ExAC
TOPMed
gnomAD
rs1457652396 998 A>T No TOPMed
gnomAD
rs369324763 999 S>T No ESP
ExAC
gnomAD
rs376483334 1000 S>N No ESP
ExAC
TOPMed
gnomAD
rs1721951944 1001 T>I No TOPMed
rs1474906446 1001 T>P No TOPMed
gnomAD
rs1415793485 1003 G>R No TOPMed
gnomAD
rs902047561 1004 I>M No TOPMed
TCGA novel 1005 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1467093649 1008 S>T No gnomAD
rs2108625759 1009 S>R No Ensembl
COSM3590508
rs1261668249
 1011 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs776142064 1012 F>L No ExAC
gnomAD
TCGA novel 1012 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1041756 1013 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1488127815 1014 S>P No TOPMed
rs1721468537 1014 S>Y No TOPMed
VAR_043596
rs35070271
 1015 M>T No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1553878877 1016 D>A No TOPMed
rs1553878877 1016 D>G No TOPMed
rs1258556690 1018 F>L No gnomAD
rs760291871 1018 F>S No ExAC
gnomAD
TCGA novel 1020 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1021 C>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1721467668 1022 E>D No TOPMed
rs771754066 1024 A>E No ExAC
TOPMed
gnomAD
rs775191322 1024 A>P No ExAC
gnomAD
rs775191322 1024 A>T No ExAC
gnomAD
rs771754066 1024 A>V No ExAC
TOPMed
gnomAD
COSM1041755 1026 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745692411 1028 E>K No ExAC
gnomAD
rs2108625708 1029 K>E No Ensembl
rs778653217 1029 K>N No ExAC
gnomAD
COSM1041754 1030 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770936848 1030 E>G No ExAC
TOPMed
gnomAD
rs1045070169 1031 S>R No TOPMed
gnomAD
rs781395171 1031 S>R No ExAC
gnomAD
rs755147015 1032 S>N No ExAC
gnomAD
rs1333134047 1032 S>R No gnomAD
rs576769954 1033 A>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1560327627 1033 A>T No Ensembl
rs1721465828 1034 L>P No TOPMed
rs375915630 1035 S>G No ESP
ExAC
TOPMed
gnomAD
rs1329288545 1036 L>V No gnomAD
rs1721448379 1037 A>P No TOPMed
rs1721448185 1037 A>V No Ensembl
rs2108625338 1038 G>A No Ensembl
VAR_043597
COSM32734
rs1560327395
 1039 L>F breast a breast cancer sample; somatic mutation [Cosmic, UniProt] No cosmic curated
UniProt
TOPMed
dbSNP
rs757630272 1039 L>R No ExAC
gnomAD
rs1560327395 1039 L>V No TOPMed
rs1167079862 1041 Q>* No TOPMed
gnomAD
rs1167079862 1041 Q>E No TOPMed
gnomAD
rs754331263 1042 S>L No ExAC
TOPMed
gnomAD
COSM3722497 1043 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2108625323 1044 D>N No 1000Genomes
rs1347709923 1045 S>G No TOPMed
gnomAD
rs1398546010 1047 E>K No TOPMed
rs1233159229 1049 C>G No gnomAD
rs1487693967
COSM729672
 1049 C>Y lung [Cosmic] No cosmic curated
gnomAD
rs1277758977 1050 S>A No TOPMed
gnomAD
rs1721446606 1050 S>C No TOPMed
rs1182974986 1051 S>F No gnomAD
rs1576900895 1051 S>P No Ensembl
TCGA novel 1052 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1246684511 1054 A>T No TOPMed
gnomAD
rs1721445895 1056 L>P No Ensembl
rs1721445800 1057 E>D No Ensembl
rs1216118358 1058 R>G No TOPMed
gnomAD
TCGA novel 1058 R>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs759199603 1058 R>K No ExAC
TOPMed
gnomAD
rs766189304 1061 S>N No ExAC
TOPMed
gnomAD
rs1721445054 1062 S>G No gnomAD
rs773223867 1062 S>I No ExAC
TOPMed
gnomAD
rs773223867 1062 S>T No ExAC
TOPMed
gnomAD
rs769857394 1063 Q>H No ExAC
gnomAD
COSM3846835 1064 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs374949497 1064 G>R No ESP
ExAC
gnomAD
rs772085083 1065 E>A No ExAC
gnomAD
rs775660434 1065 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1721444075 1066 K>Q No Ensembl
rs1721443776 1067 E>D No Ensembl
COSM5834624 1067 E>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1461900480 1067 E>K No gnomAD
rs746099121 1067 E>V No ExAC
gnomAD
TCGA novel 1068 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779064033 1069 R>H No ExAC
TOPMed
gnomAD
rs779064033 1069 R>L No ExAC
TOPMed
gnomAD
rs1162155259 1069 R>S No gnomAD
rs1476212915 1070 D>G No Ensembl
rs200368808 1070 D>H No ExAC
TOPMed
gnomAD
rs200368808 1070 D>N No ExAC
TOPMed
gnomAD
rs200368808 1070 D>Y No ExAC
TOPMed
gnomAD
rs749660968
COSM582743
 1071 E>K lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs1721442734 1072 E>G No Ensembl
rs1160945360
COSM729673
 1072 E>K lung [Cosmic] No cosmic curated
TOPMed
rs372044410 1073 E>A No ESP
ExAC
TOPMed
gnomAD
rs1421465871 1073 E>K No TOPMed
rs756640415 1074 T>A No ExAC
TOPMed
gnomAD
rs753248648 1074 T>M No ExAC
gnomAD
rs1721438465 1075 A>S No Ensembl
rs748680965 1076 T>I No ExAC
TOPMed
gnomAD
rs1576900707 1076 T>P No Ensembl
rs781605062 1077 R>C No ExAC
TOPMed
gnomAD
rs781605062 1077 R>G No ExAC
TOPMed
gnomAD
rs1242782132 1077 R>H No gnomAD
rs746942664 1078 S>R No ExAC
TOPMed
gnomAD
rs1282820841 1079 T>I No gnomAD
rs1386062296 1080 E>D No TOPMed
gnomAD
rs1560327153 1080 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs1560327153 1080 E>Q No Ensembl
rs1438530662 1081 E>K No gnomAD
rs758146515 1082 E>D No ExAC
TOPMed
gnomAD
rs779812377 1082 E>K No ExAC
TOPMed
gnomAD
rs779812377 1082 E>Q No ExAC
TOPMed
gnomAD
rs750149922 1083 R>C No ExAC
TOPMed
gnomAD
rs750149922 1083 R>G No ExAC
TOPMed
gnomAD
rs750149922 1083 R>S No ExAC
TOPMed
gnomAD
rs765120652 1084 A>S No ExAC
gnomAD
rs765120652 1084 A>T No ExAC
gnomAD
rs1428109089 1086 A>G No gnomAD
rs1721436023 1088 T>R No TOPMed
rs1721435802 1090 R>G No TOPMed
rs763945848 1090 R>Q No ExAC
TOPMed
gnomAD
rs1721435802 1090 R>W No TOPMed
rs1022815259 1091 L>P No TOPMed
gnomAD
rs759624356 1092 A>V No ExAC
TOPMed
rs1174495754 1094 A>E No TOPMed
gnomAD
rs774320401 1094 A>T No ExAC
gnomAD
rs1174495754 1094 A>V No TOPMed
gnomAD
rs1420922248 1095 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1420922248 1095 G>V No TOPMed
gnomAD
rs1430825073 1095 G>W No gnomAD
rs1476905161 1096 A>P No TOPMed
gnomAD
rs1476905161 1096 A>T No TOPMed
gnomAD
rs1211891519 1100 F>L No gnomAD
rs1485198618 1101 Q>E No gnomAD
rs1721432988 1101 Q>P No Ensembl
rs1173486840 1102 A>E No gnomAD
COSM1041752 1102 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs572003260 1103 R>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1178498883 1104 A>S No TOPMed
gnomAD
rs770126804 1105 L>P No ExAC
TOPMed
gnomAD
rs770126804 1105 L>R No ExAC
TOPMed
gnomAD
rs1471335883 1106 R>C No TOPMed
rs748471652 1107 P>A No ExAC
gnomAD
rs113905816 1107 P>L No TOPMed
gnomAD
rs113905816 1107 P>R No TOPMed
gnomAD
rs781673794 1108 R>G No ExAC
TOPMed
gnomAD
rs1424688817 1108 R>K No TOPMed
gnomAD
rs1413796107 1110 S>F No gnomAD
rs779688134 1111 A>S No ExAC
TOPMed
gnomAD
rs779688134 1111 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1446134538 1112 Q>H No TOPMed
gnomAD
rs758048707 1112 Q>P No ExAC
TOPMed
gnomAD
rs746933877 1113 E>D No ExAC
gnomAD
rs1329409817 1113 E>G No TOPMed
rs1721430446 1114 S>T No gnomAD
rs745503042 1115 S>C No ExAC
TOPMed
gnomAD
rs1378207843 1115 S>L No Ensembl

4 associated diseases with Q86YR7

[MIM: 153100]: Lymphatic malformation 1 (LMPHM1)

A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis. {ECO:0000269|PubMed:10835628, ECO:0000269|PubMed:10856194, ECO:0000269|PubMed:12881528, ECO:0000269|PubMed:15102829, ECO:0000269|PubMed:16924388, ECO:0000269|PubMed:16965327, ECO:0000269|PubMed:17458866, ECO:0000269|PubMed:19289394, ECO:0000269|PubMed:26091405, ECO:0000269|PubMed:9817924}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 602089]: Hemangioma, capillary infantile (HCI)

A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. {ECO:0000269|PubMed:11807987}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 618780]: Congenital heart defects, multiple types, 7 (CHTD7)

An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. {ECO:0000269|PubMed:28991257, ECO:0000269|PubMed:30232381}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis. {ECO:0000269|PubMed:10835628, ECO:0000269|PubMed:10856194, ECO:0000269|PubMed:12881528, ECO:0000269|PubMed:15102829, ECO:0000269|PubMed:16924388, ECO:0000269|PubMed:16965327, ECO:0000269|PubMed:17458866, ECO:0000269|PubMed:19289394, ECO:0000269|PubMed:26091405, ECO:0000269|PubMed:9817924}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. {ECO:0000269|PubMed:11807987}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. {ECO:0000269|PubMed:28991257, ECO:0000269|PubMed:30232381}. Note=The disease is caused by variants affecting the gene represented in this entry.

24 regional properties for Q86YR7

Type Name Position InterPro Accession
domain Protein kinase domain 845 - 1173 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 845 - 1169 IPR001245
conserved_site Tyrosine-protein kinase, receptor class III, conserved site 904 - 917 IPR001824
domain Immunoglobulin subtype 2 243 - 317 IPR003598-1
domain Immunoglobulin subtype 2 347 - 406 IPR003598-2
domain Immunoglobulin subtype 2 569 - 660 IPR003598-3
domain Immunoglobulin subtype 2 690 - 755 IPR003598-4
domain Immunoglobulin subtype 36 - 133 IPR003599-1
domain Immunoglobulin subtype 237 - 328 IPR003599-2
domain Immunoglobulin subtype 341 - 419 IPR003599-3
domain Immunoglobulin subtype 430 - 552 IPR003599-4
domain Immunoglobulin subtype 563 - 673 IPR003599-5
domain Immunoglobulin subtype 684 - 766 IPR003599-6
domain Immunoglobulin-like domain 30 - 111 IPR007110-1
domain Immunoglobulin-like domain 219 - 326 IPR007110-2
domain Immunoglobulin-like domain 331 - 415 IPR007110-3
domain Immunoglobulin-like domain 422 - 552 IPR007110-4
domain Immunoglobulin-like domain 555 - 671 IPR007110-5
domain Immunoglobulin-like domain 678 - 764 IPR007110-6
active_site Tyrosine-protein kinase, active site 1033 - 1045 IPR008266
domain Immunoglobulin I-set 678 - 765 IPR013098
binding_site Protein kinase, ATP binding site 851 - 879 IPR017441
domain Tyrosine-protein kinase, catalytic domain 845 - 1169 IPR020635
domain VEGFR-2, transmembrane domain 770 - 804 IPR041348

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name Definition
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O75962 TRIO Triple functional domain protein Homo sapiens (Human) EV
O60229 KALRN Kalirin Homo sapiens (Human) SS
Q86VW2 ARHGEF25 Rho guanine nucleotide exchange factor 25 Homo sapiens (Human) EV
P10911 MCF2 Proto-oncogene DBL Homo sapiens (Human) EV
O15068 MCF2L Guanine nucleotide exchange factor DBS Homo sapiens (Human) SS
Q0KL02 Trio Triple functional domain protein Mus musculus (Mouse) SS
Q64096 Mcf2l Guanine nucleotide exchange factor DBS Mus musculus (Mouse) SS
A2CG49 Kalrn Kalirin Mus musculus (Mouse) SS
F1M0Z1 Trio Triple functional domain protein Rattus norvegicus (Rat) SS
Q63406 Mcf2l Guanine nucleotide exchange factor DBS Rattus norvegicus (Rat) SS
P97924 Kalrn Kalirin Rattus norvegicus (Rat) SS
Q1LUA6 trio Triple functional domain protein Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MLSCLKEEMP PQELTRRLAT VITHVDEIMQ QEVRPLMAVE IIEQLHRQFA ILSGGRGEDG
70 80 90 100 110 120
APIITFPEFS GFKHIPDEDF LNVMTYLTSI PSVEAASIGF IVVIDRRRDK WSSVKASLTR
130 140 150 160 170 180
IAVAFPGNLQ LIFILRPSRF IQRTFTDIGI KYYRNEFKTK VPIIMVNSVS DLHGYIDKSQ
190 200 210 220 230 240
LTRELGGTLE YRHGQWVNHR TAIENFALTL KTTAQMLQTF GSCLATAELP RSMLSTEDLL
250 260 270 280 290 300
MSHTRQRDKL QDELKLLGKQ GTTLLSCIQE PATKCPNSKL NLNQLENVTT MERLLVQLDE
310 320 330 340 350 360
TEKAFSHFWS EHHLKLNQCL QLQHFEHDFC KAKLALDNLL EEQAEFTGIG DSVMHVEQIL
370 380 390 400 410 420
KEHKKLEEKS QEPLEKAQLL ALVGDQLIQS HHYAADAIRP RCVELRHLCD DFINGNKKKW
430 440 450 460 470 480
DILGKSLEFH RQLDKVSQWC EAGIYLLASQ AVDKCQSREG VDIALNDIAT FLGTVKEYPL
490 500 510 520 530 540
LSPKEFYNEF ELLLTLDAKA KAQKVLQRLD DVQEIFHKRQ VSLMKLAAKQ TRPVQPVAPH
550 560 570 580 590 600
PESSPKWVSS KTSQPSTSVP LARPLRTSEE PYTETELNSR GKEDDETKFE VKSEEIFESH
610 620 630 640 650 660
HERGNPELEQ QARLGDLSPR RRIIRDLLET EEIYIKEIKS IIDGYITPMD FIWLKHLIPD
670 680 690 700 710 720
VLQNNKDFLF GNIRELYEFH NRTFLKELEK CAENPELLAH CFLKRKEDLQ IYFKYHKNLP
730 740 750 760 770 780
RARAIWQECQ DCAYFGVCQR QLDHNLPLFK YLKGPSQRLI KYQMLLKGLL DFESPEDMEI
790 800 810 820 830 840
DPGELGGSAK DGPKRTKDSA FSTELQQALA VIEDLIKSCE LAVDLAAVTE CPDDIGKLGK
850 860 870 880 890 900
LLLHGPFSVW TIHKDRYKMK DLIRFKPSQR QIYLFERGIV FCKIRMEPGD QGLSPHYSFK
910 920 930 940 950 960
KTMKLMTLSI RQLGRGSHRK FEIASRNGLE KYILQAASKE IRDCWFSEIS KLLMEQQNNI
970 980 990 1000 1010 1020
KDQGNPQFEM STSKGSGAGS GPWIKNMERA TTSKEDPASS TGGIKGCSSR EFSSMDTFED
1030 1040 1050 1060 1070 1080
CEGAEDMEKE SSALSLAGLF QSDDSHETCS SKSAFLERGE SSQGEKEERD EEETATRSTE
1090 1100 1110
EERAGASTGR LAPAGATAGF QARALRPRTS AQES