P26232
SS
Gene name |
CTNNA2 (CAPR) |
Protein name |
Catenin alpha-2 |
Names |
Alpha N-catenin , Alpha-catenin-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1496 |
EC number |
|
Protein Class |
|
Descriptions
Catenin alpha-3 (Ctnna3, αT-catenin) functions as a crucial molecular bridge, connecting cadherin proteins to the actin cytoskeleton and ensuring the integrity of cell-cell adhesion. In contrast to Ctnna1, the αT-catenin N-terminus is required to maintain the middle (M)-region autoinhibition and modulate vinculin binding. The steric, nonspecific interactions between the αT-catenin N-terminus and M-region promote MI folding and M-region autoinhibition. Actin binding relieves the autoinhibition, which is tension-dependent.
Autoinhibitory domains (AIDs)
Target domain |
262-629 (Middle region) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Heier JA et al. (2021) "Distinct intramolecular interactions regulate autoinhibition of vinculin binding in αT-catenin and αE-catenin", The Journal of biological chemistry, 296, 100582
- Ishiyama N et al. (2013) "An autoinhibited structure of α-catenin and its implications for vinculin recruitment to adherens junctions", The Journal of biological chemistry, 288, 15913-25
- Hirano Y et al. (2018) "The force-sensing device region of α-catenin is an intrinsically disordered segment in the absence of intramolecular stabilization of the autoinhibitory form", Genes to cells : devoted to molecular & cellular mechanisms, 23, 370-385
- Choi HJ et al. (2012) "αE-catenin is an autoinhibited molecule that coactivates vinculin", Proceedings of the National Academy of Sciences of the United States of America, 109, 8576-81
- Rangarajan ES et al. (2023) "Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments", Communications biology, 6, 276
- Barrick S et al. (2018) "Salt bridges gate α-catenin activation at intercellular junctions", Molecular biology of the cell, 29, 111-122
- Li J et al. (2015) "Structural Determinants of the Mechanical Stability of α-Catenin", The Journal of biological chemistry, 290, 18890-903
Autoinhibited structure
Activated structure
2 structures for P26232
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6DUW | X-ray | 220 A | A | 651-953 | PDB |
| AF-P26232-F1 | Predicted | AlphaFoldDB |
621 variants for P26232
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1735658 rs753989146 RCV001328662 |
484 | V>I | Cortical dysplasia, complex, with other brain malformations 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000721109 CA1735663 rs778294237 |
494 | R>* | Cortical dysplasia, complex, with other brain malformations 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_081335 | 494 | R>del | CDCBM9 [UniProt] | Yes | UniProt |
|
RCV000721108 rs1413537928 CA347510762 |
781 | R>* | Cortical dysplasia, complex, with other brain malformations 9 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_081336 | 781 | R>del | CDCBM9; loss-of-function variant resulting in decreased neurite length and impaired neuronal migration in patient-derived nerve cells; no protein detected in patient cells [UniProt] | Yes | UniProt |
|
COSM1023228 rs760139097 CA1735953 RCV000721107 |
930 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Cortical dysplasia, complex, with other brain malformations 9 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_081337 | 930 | R>del | CDCBM9; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA1734916 COSM1409668 rs745947461 |
3 | S>L | large_intestine Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA347503831 rs1451882176 |
4 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1734918 rs372730685 |
5 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1734919 rs190886290 |
7 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA51091036 rs948289556 |
8 | I>M | No |
ClinGen gnomAD |
|
|
CA1734921 rs774611614 COSM1659986 |
8 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA51091037 rs968479110 |
10 | L>P | No |
ClinGen TOPMed |
|
|
rs1331502885 CA347503884 |
13 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 13 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347503893 rs762317505 |
14 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762317505 CA1734922 |
14 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1734923 rs767925695 |
15 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 17 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328323453 CA347503933 COSM722333 |
19 | I>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA51091038 rs925572513 |
20 | R>Q | No |
ClinGen gnomAD |
|
|
rs1375088104 CA347503935 |
20 | R>W | No |
ClinGen gnomAD |
|
|
CA1734925 rs369692132 COSM3391862 |
21 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
| TCGA novel | 24 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs1264391119 CA347503973 |
26 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA347503972 rs1241969167 |
26 | R>T | No |
ClinGen gnomAD |
|
|
CA347503987 rs1215126066 |
29 | E>K | No |
ClinGen gnomAD |
|
|
CA1734928 rs754644562 |
30 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1430545501 CA347504017 |
33 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 35 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263438565 CA347504114 |
44 | K>R | No |
ClinGen TOPMed |
|
|
CA347504119 rs1378712356 |
45 | G>S | No |
ClinGen gnomAD |
|
|
rs1486984809 CA347504135 |
47 | S>Y | No |
ClinGen TOPMed |
|
|
CA1734957 rs780217471 |
48 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA347504171 rs1290201781 |
53 | R>G | No |
ClinGen gnomAD |
|
|
CA1734958 rs749396664 |
58 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1301804400 CA347504216 |
59 | V>A | No |
ClinGen gnomAD |
|
|
CA1734959 rs755217215 |
59 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347504239 rs1358427063 |
63 | S>C | No |
ClinGen TOPMed |
|
|
rs1237805291 CA347504247 |
65 | E>K | No |
ClinGen gnomAD |
|
|
rs1285258376 CA347504255 |
66 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51102171 rs776430147 |
73 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1216604825 CA347504316 |
74 | K>M | No |
ClinGen gnomAD |
|
|
CA347504335 rs1487664380 |
77 | Q>* | No |
ClinGen gnomAD |
|
|
rs748517537 CA1734962 |
77 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377364195 CA347504348 |
79 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377364195 CA1734963 |
79 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1734964 rs773644253 CA347504365 |
81 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs761552911 CA51102173 |
81 | E>G | No |
ClinGen Ensembl |
|
|
rs747471556 CA1734965 |
82 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220708457 CA347504370 |
82 | S>T | No |
ClinGen TOPMed |
|
|
CA1734967 rs370052135 |
84 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 84 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 84 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759102402 CA1734968 |
87 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs764938006 CA1734969 |
88 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs775044854 CA1734970 |
88 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA1734972 rs763757402 |
89 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA1734973 rs751405871 |
90 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769618732 CA51102175 |
91 | A>G | No |
ClinGen Ensembl |
|
|
rs1224400149 CA347504487 |
91 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 92 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51102176 rs773262596 |
93 | V>A | No |
ClinGen Ensembl |
|
|
rs1286475902 CA347504515 |
93 | V>I | No |
ClinGen gnomAD |
|
|
CA1734976 rs373818447 |
97 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1734977 rs376745664 |
97 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA347504622 rs1558891190 |
99 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 100 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735007 rs748889262 |
102 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277830599 CA347504434 |
103 | M>T | No |
ClinGen gnomAD |
|
|
rs1216702402 CA347504443 |
104 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM256706 rs574924497 CA1735009 |
104 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs200794947 CA1735012 |
106 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 107 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347504483 rs1368785587 |
108 | S>C | No |
ClinGen Ensembl |
|
|
rs766350655 CA1735014 |
109 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347504509 rs1192427315 |
111 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 112 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188929964 CA347504554 |
115 | C>S | No |
ClinGen TOPMed |
|
|
CA1735015 rs752704214 |
116 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1735017 rs766045574 |
120 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751827909 CA1735018 |
120 | R>H | Variant assessed as Somatic; 0.0001391 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372361564 CA1735020 |
121 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347504636 rs1398264167 |
123 | M>V | No |
ClinGen gnomAD |
|
|
rs1317826198 CA347504654 |
124 | V>L | No |
ClinGen gnomAD |
|
|
CA1735025 rs768333764 |
125 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3739938 CA1735023 rs780680680 |
125 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs368392741 CA1735026 |
126 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347504668 rs1305008385 |
127 | A>S | No |
ClinGen TOPMed |
|
|
CA1735028 rs377081241 |
129 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767471740 CA51115602 |
132 | S>C | No |
ClinGen Ensembl |
|
|
rs760574291 COSM576158 CA1735031 |
133 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760574291 CA1735030 |
133 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs141412774 CA1735032 |
133 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735034 rs764111482 |
134 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM84606 rs756019081 CA1735035 |
136 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1245962200 CA347504718 COSM1023186 |
136 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 139 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767786661 CA1735037 |
139 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs756543455 CA1735039 COSM576156 |
141 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1385906082 CA347504755 |
142 | D>V | No |
ClinGen gnomAD |
|
|
rs1271030017 CA347504767 |
144 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402706141 CA347504804 |
149 | L>F | No |
ClinGen gnomAD |
|
|
CA347504808 rs1321850978 |
149 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442103269 CA347504847 |
155 | I>T | No |
ClinGen gnomAD |
|
|
rs575691331 CA1735058 COSM722309 |
156 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs199898826 CA347504886 CA1735060 |
158 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758020014 CA1735062 |
161 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735063 rs777267019 |
163 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1735064 rs746622778 |
164 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311785162 CA347504927 |
165 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207995137 CA347504943 |
168 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735065 rs756890656 |
174 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1735066 rs780983310 |
175 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM84608 rs745722142 CA1735067 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1258697237 CA347505002 |
176 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1395007310 CA347505016 |
178 | E>* | No |
ClinGen Ensembl |
|
|
CA347505017 rs1306637771 |
178 | E>A | No |
ClinGen gnomAD |
|
|
rs769719932 CA1735068 |
178 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021697069 CA51116948 |
182 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 183 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775449028 CA1735069 |
185 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1445938300 CA347505082 |
187 | N>S | No |
ClinGen Ensembl |
|
|
CA1735072 rs772145072 |
188 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347505130 rs1558597707 |
194 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 195 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735090 rs749187393 |
199 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA51117385 rs926474337 |
200 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768485978 CA1735091 |
200 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs372749015 CA347505204 |
203 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372749015 CA51117386 |
203 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 204 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735093 rs747112292 |
206 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1303996853 CA347505234 |
207 | A>V | No |
ClinGen gnomAD |
|
|
CA51117387 rs370270410 |
209 | A>S | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 209 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282303305 CA347505247 |
210 | R>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 210 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735095 rs777032066 COSM419094 |
210 | R>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA347505249 rs777032066 COSM576154 |
210 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA347505256 rs1262718329 |
212 | A>T | No |
ClinGen gnomAD |
|
|
rs1558601166 CA347505304 |
219 | M>V | No |
ClinGen Ensembl |
|
|
rs1213521765 CA347505327 |
222 | T>A | No |
ClinGen gnomAD |
|
|
rs764567856 CA1735100 |
222 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1419185964 CA347505372 |
229 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM722301 rs945046536 CA51117388 |
229 | R>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA51117389 rs945046536 |
229 | R>L | No |
ClinGen TOPMed |
|
|
rs1574194330 CA347505379 |
230 | H>P | No |
ClinGen Ensembl |
|
|
rs1170524504 CA347505380 |
230 | H>Q | No |
ClinGen TOPMed |
|
|
COSM258990 CA51117392 rs559758762 |
233 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs371032975 CA1735105 |
234 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396563178 CA347505406 |
235 | A>T | No |
ClinGen gnomAD |
|
|
rs1202063304 CA347505413 |
236 | T>A | No |
ClinGen TOPMed |
|
|
COSM3364882 CA347505417 rs1278915845 |
236 | T>M | kidney Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1224419711 CA347505420 |
237 | R>K | No |
ClinGen gnomAD |
|
|
rs778779809 CA1735109 |
238 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51117394 rs900008840 |
240 | R>* | No |
ClinGen gnomAD |
|
|
rs747077179 CA1735110 |
240 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770963101 CA1735111 |
243 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs997397145 CA51117395 |
244 | F>S | No |
ClinGen Ensembl |
|
|
rs775984136 CA1735115 |
246 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA347505490 rs1553390275 |
248 | Q>* | No |
ClinGen Ensembl |
|
|
rs769174106 CA1735117 |
248 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1735119 rs762403109 COSM1202582 |
252 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA51117396 rs888681453 |
253 | G>S | No |
ClinGen Ensembl |
|
|
rs772709424 CA1735121 |
255 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766082897 CA1735123 |
256 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs760259077 CA1735122 |
256 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347505547 rs1284886915 |
257 | A>S | No |
ClinGen TOPMed |
|
|
rs769068982 CA51117398 |
257 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 258 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347505571 rs1574194712 |
261 | T>P | No |
ClinGen Ensembl |
|
|
rs754773463 CA1735125 |
262 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752530255 CA1735127 |
263 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs758443369 CA1735128 |
264 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs745959248 CA1735130 |
266 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM109987 CA51117399 rs139544972 |
266 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 267 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347505623 rs1272911438 |
269 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735132 rs780463058 |
271 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347505636 rs371923353 |
271 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1735133 rs371923353 |
271 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371923353 CA1735134 |
271 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347505635 rs780463058 |
271 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347505664 rs747891055 |
276 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 278 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760249011 CA1735139 |
278 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1230761553 CA347505698 |
281 | N>S | No |
ClinGen TOPMed |
|
|
rs1222267325 CA347505708 |
282 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1735142 rs759256794 |
282 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs764902612 CA347505724 |
284 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528254325 CA1735177 |
285 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1448458965 CA347505747 |
286 | K>E | No |
ClinGen gnomAD |
|
|
rs762881187 CA1735178 |
287 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764100817 CA1735179 |
288 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428121684 CA347505778 |
290 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1194318333 CA347505812 |
295 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735182 rs766300730 |
300 | R>Q | No |
ClinGen ExAC |
|
|
CA347505859 rs1254632873 |
302 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 302 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377243520 CA51121627 |
302 | S>T | No |
ClinGen ESP |
|
| TCGA novel | 303 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158150278 CA347505861 |
303 | L>V | No |
ClinGen gnomAD |
|
|
CA347505875 rs1386017500 |
305 | E>* | No |
ClinGen gnomAD |
|
|
CA1735183 rs753963016 COSM1615146 |
306 | R>G | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA51121630 rs79358881 |
309 | S>I | No |
ClinGen Ensembl |
|
|
rs867223004 CA51121631 |
311 | I>S | No |
ClinGen Ensembl |
|
|
CA51121632 rs868253636 |
312 | S>G | No |
ClinGen Ensembl |
|
|
CA347505935 rs1326148993 |
314 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279758031 CA347505951 |
317 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 319 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs13004023 CA51121634 |
321 | S>F | No |
ClinGen gnomAD |
|
|
rs1468771318 CA347505997 |
323 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1215410582 CA347505999 COSM3719919 |
324 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347506017 rs1181262491 |
326 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1735190 rs771474697 |
326 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1473722134 CA347506021 |
327 | R>Q | No |
ClinGen gnomAD |
|
|
rs780510791 CA1735191 |
327 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347506023 rs1417541064 COSM1172898 |
328 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347506042 COSM722291 rs1262697787 |
330 | R>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA347506043 rs1228815342 |
331 | I>L | No |
ClinGen TOPMed |
|
|
CA347506054 rs1165447044 |
332 | V>A | No |
ClinGen gnomAD |
|
|
CA347506058 rs1395041551 |
333 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 337 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 338 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768529296 CA1735196 |
338 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768529296 COSM304746 CA347506092 |
338 | V>M | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1292295690 CA347506103 |
340 | Q>E | No |
ClinGen gnomAD |
|
|
rs1335168432 COSM1409680 CA347506115 |
341 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1735198 rs761781497 |
342 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203739181 CA347506123 |
343 | Q>* | No |
ClinGen gnomAD |
|
|
CA347506135 rs1195280530 |
344 | D>E | No |
ClinGen gnomAD |
|
|
CA1735201 rs759706163 |
350 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759706163 CA51121637 |
350 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347506179 rs1185995811 |
351 | N>H | Variant assessed as Somatic; 0.003492 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1032651242 CA51179530 |
355 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 356 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772870147 CA1735532 |
357 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490230233 CA347509332 |
357 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373365115 CA1735533 |
359 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277587137 CA347509384 |
364 | I>M | No |
ClinGen gnomAD |
|
|
RCV000955945 rs61754542 CA1735535 |
364 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770693896 CA1735534 |
364 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51179531 rs369970894 |
365 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA347509394 rs1160894231 |
366 | I>T | No |
ClinGen gnomAD |
|
|
CA1735537 rs765337293 |
367 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347509422 rs1329048098 |
370 | T>S | No |
ClinGen TOPMed |
|
|
CA1735539 rs762005209 |
374 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347509451 rs762005209 |
374 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368444172 CA347509455 |
375 | D>N | No |
ClinGen gnomAD |
|
|
CA1735540 rs767518620 |
376 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA51179532 rs867353604 |
377 | R>K | No |
ClinGen Ensembl |
|
|
CA347509477 rs1306656479 |
378 | R>I | No |
ClinGen TOPMed |
|
|
rs1245675570 CA347506229 |
381 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766627834 CA1735566 |
381 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965510713 CA51182449 |
384 | V>A | No |
ClinGen Ensembl |
|
|
CA1735567 rs545104986 |
384 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1735568 rs759844097 |
385 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1374532476 CA347506261 |
386 | D>G | No |
ClinGen gnomAD |
|
|
CA347506275 rs1175614546 |
388 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1735569 rs765618740 |
395 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000906383 rs144724508 CA1735571 |
396 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1382927367 CA347506336 |
397 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51182450 rs267599472 |
398 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1381817577 CA347506351 |
399 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 401 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735574 rs756943309 COSM1023216 |
402 | L>P | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781043809 CA1735575 |
403 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs376103479 CA1735577 |
406 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376103479 CA51182452 |
406 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 407 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148134866 CA347506406 |
408 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1488542273 CA347506408 COSM239478 |
409 | G>R | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1735579 rs749233213 |
412 | K>M | No |
ClinGen ExAC |
|
| TCGA novel | 412 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735581 rs773307596 |
418 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347506492 rs1263495673 |
420 | V>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1735582 rs760717069 |
422 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 423 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156890592 CA347506533 |
426 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356676384 CA347510988 |
432 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347510996 rs1477041614 |
433 | N>S | No |
ClinGen TOPMed |
|
|
rs774683181 CA1735607 |
435 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347511011 rs1361327745 |
435 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762417293 CA1735608 |
436 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs762417293 CA1735609 |
436 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1375885251 CA347511018 |
437 | S>T | No |
ClinGen TOPMed |
|
|
CA1735611 rs755792956 |
441 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1442909560 CA347511078 |
445 | V>A | No |
ClinGen gnomAD |
|
|
CA347511076 rs1240049476 |
445 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347511095 rs1183190393 |
448 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 448 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735614 rs754689563 |
449 | R>Q | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753550582 CA1735613 COSM1409702 |
449 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 451 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354351956 CA347511114 |
451 | A>S | No |
ClinGen gnomAD |
|
|
rs372299559 CA1735615 |
453 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347511139 rs1300475659 |
454 | Q>E | No |
ClinGen gnomAD |
|
|
rs748019286 CA1735616 |
454 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA1735618 rs758389836 |
457 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 458 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735619 rs745988912 |
460 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480370997 CA347511374 |
463 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347511379 rs1480370997 |
463 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372130983 CA51197434 |
464 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772583598 CA347511435 |
466 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1735645 rs772583598 |
466 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1735646 rs773814879 |
466 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1224021331 CA347511515 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1735650 rs759107518 |
472 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1735651 rs565385881 |
473 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565385881 CA347511521 |
473 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1347217502 CA347511550 |
475 | S>G | No |
ClinGen gnomAD |
|
|
CA1735652 rs752467983 |
476 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480619460 CA347511576 |
476 | K>N | No |
ClinGen TOPMed |
|
|
rs762691048 CA1735653 |
477 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1179286957 CA347511611 |
479 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 482 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751434628 CA1735655 |
482 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347511654 rs1250699829 |
482 | M>T | No |
ClinGen TOPMed |
|
|
CA1735656 rs751434628 |
482 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1735659 rs755128469 |
486 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265474362 CA347511748 |
488 | Q>R | No |
ClinGen TOPMed |
|
|
CA51197436 rs201409476 |
489 | W>L | No |
ClinGen Ensembl |
|
|
rs1249034825 CA347511760 |
489 | W>R | No |
ClinGen gnomAD |
|
|
CA1735661 rs748410889 |
493 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 493 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347511854 rs1161335086 |
494 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 494 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347511882 rs1405404977 |
497 | T>I | No |
ClinGen gnomAD |
|
|
COSM369576 CA1735664 rs376635234 |
499 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs775975399 CA1735666 |
500 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1377768390 CA347511918 |
503 | I>V | No |
ClinGen gnomAD |
|
|
rs1242551165 CA347511929 |
504 | T>I | No |
ClinGen gnomAD |
|
|
CA1735668 rs368671776 |
506 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347511956 rs1292484137 |
508 | D>E | No |
ClinGen gnomAD |
|
|
rs1166796923 CA347511957 |
509 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1047163596 CA51197439 |
510 | L>F | No |
ClinGen TOPMed |
|
|
rs762603105 COSM1532710 CA1735670 |
511 | S>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 513 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735671 rs763821800 |
513 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs372762175 CA1735689 |
516 | H>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA347512064 rs1355823068 |
521 | V>A | No |
ClinGen TOPMed |
|
|
CA1735690 rs761616684 |
521 | V>M | No |
ClinGen ExAC |
|
|
rs773134723 CA347512106 |
527 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1735692 rs773134723 |
527 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 528 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279251577 CA347512115 |
529 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 529 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765394694 CA1735694 COSM1249388 |
532 | D>N | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1735696 rs758663416 |
535 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs374311367 COSM307413 CA1735699 |
538 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1735698 rs751754914 |
538 | R>W | Variant assessed as Somatic; 4.663e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 539 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM576120 rs1425512623 CA347512186 |
540 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347512190 rs1175681761 |
541 | G>R | No |
ClinGen gnomAD |
|
|
rs1174523985 CA347512203 |
543 | I>V | No |
ClinGen gnomAD |
|
|
rs779539512 CA1735703 |
546 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347512239 rs1342796199 |
549 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA51198731 rs1046806310 |
549 | R>Q | No |
ClinGen TOPMed |
|
|
rs533425301 CA1735705 |
551 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA51198732 rs888165031 |
552 | H>Q | No |
ClinGen TOPMed |
|
|
rs774013134 CA1735706 |
552 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs747757514 CA1735707 |
555 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs545265526 CA51198733 |
556 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1735708 rs545265526 |
556 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1258444394 CA347512285 |
557 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs905820071 CA347512291 |
557 | E>D | No |
ClinGen gnomAD |
|
|
CA1735710 rs760685287 |
558 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772936089 CA1735709 |
558 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1735711 rs766458643 |
561 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347512319 rs766458643 |
561 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1735712 rs775689927 |
562 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA51198735 rs199781520 |
562 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA347512329 rs1434856000 |
563 | A>S | No |
ClinGen gnomAD |
|
|
rs560664009 CA1735713 |
563 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347512350 rs1453268744 |
566 | Y>C | No |
ClinGen gnomAD |
|
|
CA347512359 rs1327899680 |
567 | T>I | No |
ClinGen TOPMed |
|
|
CA51198736 rs1001392293 |
568 | E>K | No |
ClinGen Ensembl |
|
|
CA347512364 rs1362807808 |
568 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1735715 rs751738436 |
570 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs767915073 CA1735717 |
574 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750857803 CA1735718 |
575 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1735719 rs750857803 |
575 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1035679927 CA51198738 |
576 | L>F | No |
ClinGen Ensembl |
|
|
CA347512415 rs1327278081 |
576 | L>S | No |
ClinGen TOPMed |
|
|
CA1735721 rs749823563 |
580 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1735722 rs749823563 |
580 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA347513121 CA347513123 rs1240105518 |
582 | M>I | No |
ClinGen gnomAD |
|
|
rs1442963068 CA347513125 |
583 | P>A | No |
ClinGen gnomAD |
|
|
CA1735741 rs200341629 |
584 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1735742 rs754282191 |
584 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1735744 rs778479901 COSM443273 |
586 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA347513150 rs1423465281 |
587 | E>A | No |
ClinGen gnomAD |
|
|
rs376734623 CA51201112 |
591 | V>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1735745 rs752188965 |
592 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1353502248 COSM3426710 CA347513186 |
592 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1735747 rs777518968 |
593 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758045744 CA1735746 |
593 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs367957293 CA1735749 |
594 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220425531 CA347513221 |
598 | A>D | No |
ClinGen gnomAD |
|
|
rs371544995 CA1735751 |
599 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA347513236 rs1209675145 |
600 | V>A | No |
ClinGen gnomAD |
|
|
CA347513231 rs1460075989 |
600 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA51201114 COSM109730 rs150870808 |
601 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs199851508 CA1735754 |
602 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772220678 CA1735755 |
602 | Q>P | No |
ClinGen ExAC |
|
|
rs914553384 CA347513249 |
603 | P>A | No |
ClinGen gnomAD |
|
|
rs773354348 CA1735756 |
603 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs914553384 CA51201115 |
603 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51201117 rs867688583 |
611 | D>N | No |
ClinGen Ensembl |
|
|
CA1735758 rs766715582 |
614 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1413474943 COSM242506 CA347513331 |
614 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1413474943 CA347513329 |
614 | R>L | No |
ClinGen gnomAD |
|
|
rs754265772 CA1735759 |
616 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA51201118 rs866009360 |
618 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 619 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765711976 CA1735761 |
620 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753270694 CA1735762 |
621 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1735763 rs757806141 |
622 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1735764 rs777429067 |
623 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375218627 CA1735766 |
626 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs934695419 CA51201119 |
627 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1481290699 CA347513456 |
632 | T>A | No |
ClinGen TOPMed |
|
|
rs1389778167 CA347513459 |
632 | T>I | No |
ClinGen gnomAD |
|
|
CA347513457 rs1389778167 |
632 | T>N | No |
ClinGen gnomAD |
|
|
CA347513465 rs1558612515 |
633 | P>L | No |
ClinGen Ensembl |
|
|
rs1359857555 CA347513470 |
634 | E>G | No |
ClinGen Ensembl |
|
|
rs754974251 CA1735791 |
637 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA51202121 rs962670284 |
638 | D>G | No |
ClinGen gnomAD |
|
|
rs1444733248 CA347513496 |
638 | D>N | No |
ClinGen gnomAD |
|
|
rs776677678 CA347513586 |
650 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776677678 CA1735795 |
650 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746107522 COSM1409707 CA1735796 |
650 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1573353391 CA347513591 |
651 | S>C | No |
ClinGen Ensembl |
|
|
CA51202123 rs61743764 |
651 | S>T | No |
ClinGen Ensembl |
|
|
CA51202124 rs1017120395 |
652 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1197385211 CA347513625 |
656 | Q>P | No |
ClinGen gnomAD |
|
|
rs1483064971 CA347513660 |
661 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735798 rs775983167 |
665 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775983167 CA347513688 COSM401985 |
665 | G>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM220163 rs764740838 CA1735800 |
668 | A>T | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| rs761362452 | 669 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773980494 CA347513716 |
669 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 669 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735801 rs773980494 |
669 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 676 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 676 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347513809 rs1558620348 |
680 | K>R | No |
ClinGen Ensembl |
|
|
CA347513837 rs1283598121 |
684 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 694 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 695 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 696 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265321265 CA347513929 |
696 | K>R | No |
ClinGen gnomAD |
|
|
rs1248225147 CA347513943 |
698 | D>V | No |
ClinGen TOPMed |
|
|
rs41288785 CA51203043 |
701 | V>M | No |
ClinGen Ensembl |
|
|
rs1196796842 CA347513967 |
702 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347514008 rs1233753297 |
707 | S>N | No |
ClinGen TOPMed |
|
|
COSM722226 rs780278071 CA347514011 |
707 | S>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1735834 rs537442409 |
708 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA347514031 rs1359016622 |
710 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 710 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212859822 CA347514071 |
716 | K>N | No |
ClinGen TOPMed |
|
|
CA347514077 rs1342855328 |
717 | Q>R | No |
ClinGen gnomAD |
|
|
CA1735837 rs748657990 |
722 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA347514145 rs1331233021 |
725 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 730 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347510418 rs1164677097 |
733 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 739 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347510509 rs1046015109 |
746 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1046015109 CA51204902 |
746 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs866715546 CA51204903 |
749 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 750 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333030135 CA347510561 |
754 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 758 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376679749 CA347510598 |
759 | A>S | No |
ClinGen gnomAD |
|
|
CA347510603 rs1313161719 |
760 | R>G | No |
ClinGen gnomAD |
|
|
CA347510605 rs1323387262 |
760 | R>H | Variant assessed as Somatic; 4.69e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1573429729 CA347510630 |
764 | D>G | No |
ClinGen Ensembl |
|
|
CA347510636 rs1216751050 |
765 | Q>* | Variant assessed as Somatic; 4.746e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347510638 rs1573429757 |
765 | Q>R | No |
ClinGen Ensembl |
|
|
CA347510668 rs1249978689 |
767 | P>R | No |
ClinGen TOPMed |
|
|
CA1735879 rs745434400 |
771 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748900879 CA1735882 |
779 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 788 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 793 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 798 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417696873 CA347510909 |
801 | N>S | No |
ClinGen gnomAD |
|
|
COSM1249386 CA347510918 rs1297370083 |
803 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774077104 CA1735884 |
806 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs539303925 CA1735901 |
812 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 813 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347511360 rs1264568613 |
815 | S>G | No |
ClinGen TOPMed |
|
|
CA51206694 rs984379000 |
817 | F>Y | No |
ClinGen Ensembl |
|
|
CA347511394 rs1165679696 |
818 | T>A | No |
ClinGen gnomAD |
|
|
CA1735902 rs553212689 |
819 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347511404 rs1444794632 |
819 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs267599474 CA51206695 |
822 | E>G | No |
ClinGen Ensembl |
|
|
CA347511476 rs1225382884 |
825 | C>W | No |
ClinGen TOPMed |
|
|
CA347511479 rs1331013249 |
826 | D>N | No |
ClinGen gnomAD |
|
|
rs747843196 CA1735903 |
827 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA347511516 rs1407504349 |
829 | D>H | No |
ClinGen gnomAD |
|
|
CA347511520 rs1374054926 |
829 | D>V | No |
ClinGen TOPMed |
|
|
CA347511569 rs1282798705 |
833 | A>S | No |
ClinGen gnomAD |
|
|
rs375086127 CA51206696 |
834 | S>R | No |
ClinGen Ensembl |
|
|
CA347511601 rs1234464570 |
835 | Q>H | No |
ClinGen gnomAD |
|
|
rs1356215948 CA347511600 |
835 | Q>L | No |
ClinGen gnomAD |
|
|
rs982881201 CA51206697 |
837 | S>A | No |
ClinGen TOPMed |
|
|
CA1735904 rs369414866 |
837 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51206698 rs369414866 |
837 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315572661 CA347511627 |
838 | T>A | No |
ClinGen gnomAD |
|
|
CA347511625 rs1315572661 |
838 | T>P | No |
ClinGen gnomAD |
|
|
rs1163085347 CA347511642 |
839 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 840 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347511655 rs1238347141 |
840 | L>V | No |
ClinGen gnomAD |
|
|
rs1404029593 CA347511674 |
841 | P>L | No |
ClinGen TOPMed |
|
|
CA51206701 rs941332131 |
842 | T>A | No |
ClinGen TOPMed |
|
|
rs969695905 CA51206702 |
843 | C>Y | No |
ClinGen Ensembl |
|
|
rs1439197354 CA347511704 |
844 | A>G | No |
ClinGen gnomAD |
|
|
CA1735905 rs773246088 |
845 | E>D | No |
ClinGen ExAC |
|
|
CA347511725 rs1236698963 |
846 | G>* | No |
ClinGen gnomAD |
|
|
rs1473071610 CA347511736 |
847 | A>S | No |
ClinGen gnomAD |
|
|
rs760712334 CA1735906 |
847 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1735908 rs142175705 |
848 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142175705 CA347511749 |
848 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769971987 CA1735907 |
848 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763231625 CA1735909 |
849 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1735910 rs764279725 |
850 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51206704 rs764279725 |
850 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 851 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735911 rs542162712 |
851 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 852 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347511781 rs1409399540 |
852 | G>R | No |
ClinGen TOPMed |
|
|
rs1181817508 CA347511794 |
853 | S>G | No |
ClinGen TOPMed |
|
|
CA347511814 rs1295714088 |
854 | S>R | No |
ClinGen gnomAD |
|
|
rs369333057 CA1735912 |
855 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369333057 CA347511816 |
855 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA51206705 rs979697241 |
856 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1735913 rs759061510 |
857 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340974026 CA347511850 |
858 | M>T | No |
ClinGen gnomAD |
|
|
rs1317478845 CA347512483 |
862 | A>T | No |
ClinGen gnomAD |
|
|
CA347512500 rs1448881716 COSM1409713 |
864 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1454895018 CA347512527 |
868 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 868 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 869 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 871 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 873 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201128941 CA1735933 |
877 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139367648 COSM109769 CA51210451 |
878 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA347512600 rs1162805213 |
879 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1322313670 CA347512615 |
882 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 891 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553421412 COSM372216 CA347512690 |
892 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1352767783 CA347512692 |
893 | V>F | No |
ClinGen gnomAD |
|
|
CA1735940 rs746857376 |
899 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347512729 rs746857376 |
899 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 904 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1735941 rs757086633 |
905 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA347512806 rs1450381092 |
910 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 910 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 911 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51210452 rs570025049 |
911 | P>Q | No |
ClinGen 1000Genomes |
|
| TCGA novel | 911 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532656505 CA1735944 |
913 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347512831 rs1291486133 |
914 | K>Q | No |
ClinGen TOPMed |
|
|
rs1011109638 CA51210453 |
916 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1735945 rs774459976 |
918 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748334153 CA1735946 |
919 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs772342467 CA1735948 |
924 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA51210454 rs989621739 |
925 | F>L | No |
ClinGen Ensembl |
|
|
CA1735949 rs773440337 |
925 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs921726455 CA51210455 |
926 | Q>E | No |
ClinGen Ensembl |
|
|
rs760966329 CA347512925 |
928 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1735950 rs760966329 |
928 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs766798712 CA1735951 |
928 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1735952 rs776956023 |
929 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1735954 rs202053681 |
930 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347512937 rs1316969292 |
931 | R>* | No |
ClinGen TOPMed |
|
|
CA51210456 rs529691509 COSM1483304 |
931 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1308916312 CA347512943 |
932 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1308916312 CA347512944 |
932 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1735955 rs752321444 |
933 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1340838096 CA347512977 |
937 | H>Y | No |
ClinGen TOPMed |
|
|
COSM1023230 rs1052098013 CA51210457 |
939 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs763779679 CA1735957 |
940 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751260243 CA1735958 |
941 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA51210460 rs1051389593 |
942 | Q>* | No |
ClinGen Ensembl |
|
|
rs1405977326 CA347513017 |
943 | A>V | No |
ClinGen TOPMed |
|
|
rs1256329692 CA347513027 |
945 | S>G | No |
ClinGen gnomAD |
|
|
CA347513078 rs1178102444 |
951 | D>E | No |
ClinGen gnomAD |
|
|
CA347513084 rs1399881244 |
952 | S>C | No |
ClinGen TOPMed |
|
|
rs1399881244 CA347513085 |
952 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
No associated diseases with P26232
11 regional properties for P26232
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B-box-type zinc finger | 84 - 125 | IPR000315 |
| domain | Zinc finger, RING-type | 16 - 57 | IPR001841 |
| domain | B30.2/SPRY domain | 276 - 475 | IPR001870 |
| domain | SPRY domain | 346 - 474 | IPR003877 |
| domain | Butyrophylin-like, SPRY domain | 292 - 309 | IPR003879-1 |
| domain | Butyrophylin-like, SPRY domain | 331 - 355 | IPR003879-2 |
| domain | Butyrophylin-like, SPRY domain | 361 - 374 | IPR003879-3 |
| domain | Butyrophylin-like, SPRY domain | 405 - 429 | IPR003879-4 |
| domain | SPRY-associated | 293 - 345 | IPR006574 |
| conserved_site | Zinc finger, RING-type, conserved site | 31 - 40 | IPR017907 |
| domain | Zinc finger, RING-type, eukaryotic | 16 - 54 | IPR027370 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| beta-catenin binding | Binding to a catenin beta subunit. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| brain morphogenesis | The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| dendrite morphogenesis | The process in which the anatomical structures of a dendrite are generated and organized. |
| negative regulation of Arp2/3 complex-mediated actin nucleation | Any process that stops, prevents, or reduces the frequency, rate or extent of actin nucleation mediated by the Arp2/3 complex and interacting proteins. |
| prepulse inhibition | The process in which a startle magnitude is reduced when the startling stimulus is preceded by a low-intensity prepulse. |
| radial glia guided migration of Purkinje cell | The migration of postmitotic a Purkinje cell along radial glial cells from the ventricular zone to the Purkinje cell layer. |
| regulation of neuron migration | Any process that modulates the frequency, rate or extent of neuron migration. |
| regulation of neuron projection development | Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| regulation of synapse structural plasticity | Any process that modulates the frequency, rate or extent of synapse structural plasticity. Synapse structural plasticity is a type of cytoskeletal remodeling; this remodeling is induced by stimuli that can lead to long term potentiation and it can be activity-dependent or -independent. Examples of cytoskeletal changes include the formation of new spines and increase in spine size; this can be accompanied by the insertion of greater numbers of glutamate (or other neurotransmitter) receptors into the post-synaptic membrane. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHM6 | CTNNA1 | Catenin alpha-1 | Bos taurus (Bovine) | SS |
| P12003 | VCL | Vinculin | Gallus gallus (Chicken) | EV |
| P30997 | CTNNA2 | Catenin alpha-2 | Gallus gallus (Chicken) | SS |
| P35220 | alpha-Cat | Catenin alpha | Drosophila melanogaster (Fruit fly) | SS |
| P18206 | VCL | Vinculin | Homo sapiens (Human) | SS |
| P35221 | CTNNA1 | Catenin alpha-1 | Homo sapiens (Human) | EV |
| Q9UI47 | CTNNA3 | Catenin alpha-3 | Homo sapiens (Human) | SS |
| P26231 | Ctnna1 | Catenin alpha-1 | Mus musculus (Mouse) | EV |
| Q64727 | Vcl | Vinculin | Mus musculus (Mouse) | SS |
| Q65CL1 | Ctnna3 | Catenin alpha-3 | Mus musculus (Mouse) | EV |
| Q61301 | Ctnna2 | Catenin alpha-2 | Mus musculus (Mouse) | EV |
| P26234 | VCL | Vinculin | Sus scrofa (Pig) | SS |
| P85972 | Vcl | Vinculin | Rattus norvegicus (Rat) | SS |
| P90947 | hmp-1 | Alpha-catenin-like protein hmp-1 | Caenorhabditis elegans | SS |
| A4IGI7 | ctnna2 | Catenin alpha-2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| B7ZC77 | Ctnna2 | Catenin alpha-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSATSPIIL | KWDPKSLEIR | TLTVERLLEP | LVTQVTTLVN | TSNKGPSGKK | KGRSKKAHVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AASVEQATQN | FLEKGEQIAK | ESQDLKEELV | AAVEDVRKQG | ETMRIASSEF | ADDPCSSVKR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GTMVRAARAL | LSAVTRLLIL | ADMADVMRLL | SHLKIVEEAL | EAVKNATNEQ | DLANRFKEFG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KEMVKLNYVA | ARRQQELKDP | HCRDEMAAAR | GALKKNATML | YTASQAFLRH | PDVAATRANR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DYVFKQVQEA | IAGISNAAQA | TSPTDEAKGH | TGIGELAAAL | NEFDNKIILD | PMTFSEARFR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSLEERLESI | ISGAALMADS | SCTRDDRRER | IVAECNAVRQ | ALQDLLSEYM | NNTGRKEKGD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PLNIAIDKMT | KKTRDLRRQL | RKAVMDHISD | SFLETNVPLL | VLIEAAKSGN | EKEVKEYAQV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FREHANKLVE | VANLACSISN | NEEGVKLVRM | AATQIDSLCP | QVINAALTLA | ARPQSKVAQD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NMDVFKDQWE | KQVRVLTEAV | DDITSVDDFL | SVSENHILED | VNKCVIALQE | GDVDTLDRTA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GAIRGRAARV | IHIINAEMEN | YEAGVYTEKV | LEATKLLSET | VMPRFAEQVE | VAIEALSANV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PQPFEENEFI | DASRLVYDGV | RDIRKAVLMI | RTPEELEDDS | DFEQEDYDVR | SRTSVQTEDD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QLIAGQSARA | IMAQLPQEEK | AKIAEQVEIF | HQEKSKLDAE | VAKWDDSGND | IIVLAKQMCM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IMMEMTDFTR | GKGPLKNTSD | VINAAKKIAE | AGSRMDKLAR | AVADQCPDSA | CKQDLLAYLQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RIALYCHQLN | ICSKVKAEVQ | NLGGELIVSG | TGVQSTFTTF | YEVDCDVIDG | GRASQLSTHL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PTCAEGAPIG | SGSSDSSMLD | SATSLIQAAK | NLMNAVVLTV | KASYVASTKY | QKVYGTAAVN |
| 910 | 920 | 930 | 940 | 950 | |
| SPVVSWKMKA | PEKKPLVKRE | KPEEFQTRVR | RGSQKKHISP | VQALSEFKAM | DSF |