P52735
Gene name |
VAV2 |
Protein name |
Guanine nucleotide exchange factor VAV2 |
Names |
VAV-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7410 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
198-376 (DH domain) |
Relief mechanism |
Partner binding, PTM |
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
- Aghazadeh B et al. (2000) "Structural basis for relief of autoinhibition of the Dbl homology domain of proto-oncogene Vav by tyrosine phosphorylation", Cell, 102, 625-33
- Barreira M et al. (2014) "The C-terminal SH3 domain contributes to the intramolecular inhibition of Vav family proteins", Science signaling, 7, ra35
- Yu B et al. (2010) "Structural and energetic mechanisms of cooperative autoinhibition and activation of Vav1", Cell, 140, 246-56
- Rapley J et al. (2008) "Crucial structural role for the PH and C1 domains of the Vav1 exchange factor", EMBO reports, 9, 655-61
Autoinhibited structure

Activated structure

8 structures for P52735
685 variants for P52735
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs780603223 CA5316362 |
3 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA5316361 rs755617330 |
4 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1379988829 CA375437387 |
4 | W>G | No |
ClinGen gnomAD |
|
rs749929702 CA5316360 |
7 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA375437351 rs1204773538 |
9 | R>C | No |
ClinGen gnomAD |
|
rs1436731913 CA375437341 |
10 | W>C | No |
ClinGen gnomAD |
|
CA375437327 rs1212967741 |
12 | I>M | No |
ClinGen gnomAD |
|
rs780522786 CA5316359 |
12 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5316358 rs756938235 |
14 | C>G | No |
ClinGen ExAC gnomAD |
|
rs751150439 CA5316357 |
15 | K>E | No |
ClinGen ExAC gnomAD |
|
rs762723809 CA5316355 |
18 | P>L | No |
ClinGen ExAC gnomAD |
|
CA375437292 rs763889584 |
18 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763889584 CA5316356 |
18 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5316354 rs375205296 |
19 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765191899 CA5316353 |
20 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1436628922 CA375437276 |
21 | H>D | No |
ClinGen gnomAD |
|
CA375437266 rs773370672 |
22 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5316351 rs773370672 |
22 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5316350 rs772210977 |
24 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5316348 rs774697864 |
26 | P>L | No |
ClinGen ExAC gnomAD |
|
rs762139216 CA5316349 |
26 | P>S | No |
ClinGen ExAC |
|
rs1177442941 CA375437237 |
27 | S>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1469267301 CA375437233 |
28 | A>S | No |
ClinGen gnomAD |
|
rs769205991 CA5316347 |
29 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375437225 rs769205991 |
29 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375437229 rs1249027124 |
29 | V>M | No |
ClinGen gnomAD |
|
CA375437207 rs1433420969 |
32 | D>G | No |
ClinGen TOPMed |
|
CA5316343 rs746323400 |
32 | D>N | No |
ClinGen ExAC gnomAD |
|
CA375437202 rs1177697543 |
33 | L>V | No |
ClinGen TOPMed |
|
TCGA novel | 38 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375437159 rs1224572536 |
40 | G>R | No |
ClinGen gnomAD |
|
CA201023284 rs1005902006 |
41 | V>F | No |
ClinGen TOPMed |
|
rs751271227 CA5316340 |
44 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375437121 rs1416764705 |
46 | L>V | No |
ClinGen gnomAD |
|
rs1312810374 CA375437109 |
48 | H>R | No |
ClinGen gnomAD |
|
CA5316339 rs777399618 |
48 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1347343718 CA375437097 |
50 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA375437096 rs1347343718 |
50 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA375437087 rs1160242481 |
51 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1160242481 CA375437086 |
51 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA375437088 rs1160242481 |
51 | S>Y | No |
ClinGen TOPMed gnomAD |
|
rs1362367447 CA375437080 |
52 | P>L | No |
ClinGen gnomAD |
|
rs754947202 CA5316335 |
55 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375437057 rs1258422004 |
56 | D>G | No |
ClinGen TOPMed |
|
rs1486783663 CA375437051 |
57 | L>F | No |
ClinGen gnomAD |
|
CA375437053 rs1486783663 |
57 | L>I | No |
ClinGen gnomAD |
|
CA201023235 rs368115750 |
59 | D>N | No |
ClinGen ESP TOPMed |
|
CA5316332 rs767762962 |
60 | I>V | No |
ClinGen ExAC gnomAD |
|
rs774751146 CA5316330 |
62 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764386956 CA5316329 |
64 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs146348137 CA201023175 |
65 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1288396300 CA375436956 |
69 | F>L | No |
ClinGen TOPMed |
|
CA375436950 rs1205114199 |
69 | F>L | No |
ClinGen gnomAD |
|
rs201449931 CA201016648 |
75 | I>T | No |
ClinGen 1000Genomes |
|
rs1235547692 CA375436905 |
76 | R>C | No |
ClinGen gnomAD |
|
COSM1460893 COSM1460892 CA375436904 rs1330882032 |
76 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs1344676875 CA375436876 |
80 | K>N | No |
ClinGen TOPMed |
|
CA5316299 rs778422054 |
83 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA201016626 rs541209983 |
84 | D>N | No |
ClinGen gnomAD |
|
CA5316296 rs561589068 |
86 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA375436835 rs1174175420 |
86 | F>Y | No |
ClinGen gnomAD |
|
rs756154202 CA5316295 |
91 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1421061147 CA375436789 |
92 | E>D | No |
ClinGen gnomAD |
|
CA375436760 rs1482106215 |
97 | F>L | No |
ClinGen gnomAD |
|
CA375436750 rs879500661 |
98 | D>A | No |
ClinGen Ensembl |
|
rs879500661 CA201016617 |
98 | D>V | No |
ClinGen Ensembl |
|
COSM1460890 CA375436732 COSM1460891 rs1158306898 |
101 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs765350604 CA5316290 |
102 | V>M | No |
ClinGen ExAC gnomAD |
|
rs754226739 CA5316288 |
103 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5316287 rs766660632 COSM1106526 COSM1598123 |
103 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA5316286 rs761181020 |
104 | D>G | No |
ClinGen ExAC gnomAD |
|
CA201008970 rs143480779 |
110 | S>A | No |
ClinGen 1000Genomes |
|
rs1469565534 CA375436112 |
110 | S>F | No |
ClinGen gnomAD |
|
CA5316255 rs755033891 |
111 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM76983 CA5316254 rs199806132 |
111 | A>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA375436105 rs1227993424 |
112 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA5316252 rs756519675 |
113 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375436101 rs1443070807 |
113 | S>T | No |
ClinGen TOPMed |
|
rs1324443921 CA375436078 |
116 | S>F | No |
ClinGen gnomAD |
|
rs1388590237 CA375436063 |
119 | S>G | No |
ClinGen gnomAD |
|
TCGA novel | 119 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757707681 CA5316249 |
119 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1390062805 CA375436057 |
120 | I>V | No |
ClinGen gnomAD |
|
rs763756887 CA5316247 |
121 | A>S | No |
ClinGen ExAC gnomAD |
|
rs763756887 CA5316248 |
121 | A>T | No |
ClinGen ExAC gnomAD |
|
COSM1582793 COSM1582794 rs564658959 CA5316246 |
121 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
TCGA novel | 122 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA201008948 rs973702754 |
122 | Q>R | No |
ClinGen Ensembl |
|
TCGA novel | 123 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs552496774 CA5316244 |
123 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5316243 rs759182638 |
125 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776325440 CA5316242 |
126 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 128 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1236806892 CA375435147 |
128 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA375435136 rs1207824569 |
129 | F>C | No |
ClinGen gnomAD |
|
COSM1701902 COSM1701903 CA5316211 rs1325408097 |
130 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs753191819 CA5316209 |
131 | S>L | No |
ClinGen ExAC gnomAD |
|
CA375435128 rs1270255113 |
131 | S>T | No |
ClinGen gnomAD |
|
rs1204274924 CA375435122 |
132 | E>Q | No |
ClinGen Ensembl |
|
TCGA novel | 136 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs374867136 CA5316205 |
139 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs540258929 CA5316206 |
139 | D>N | Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA5316203 rs750247928 |
141 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1588242556 CA375435049 |
142 | Y>S | No |
ClinGen Ensembl |
|
CA375435043 rs761751112 |
143 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5316200 rs774257474 |
143 | R>H | No |
ClinGen ExAC gnomAD |
|
CA375435041 rs774257474 COSM48838 |
143 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs774257474 CA375435042 |
143 | R>P | No |
ClinGen ExAC gnomAD |
|
rs761751112 CA5316201 |
143 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1466845014 CA375435037 |
144 | S>N | No |
ClinGen TOPMed |
|
CA375435012 rs1192829034 |
147 | E>D | No |
ClinGen gnomAD |
|
CA375434999 rs1413060227 |
150 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA200991081 rs973290261 |
151 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA375436633 rs1167880867 |
156 | E>* | No |
ClinGen gnomAD |
|
rs546183608 CA5316171 |
156 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1282762869 CA375436632 |
156 | E>G | No |
ClinGen TOPMed |
|
TCGA novel | 156 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5316170 rs769233434 |
157 | D>G | No |
ClinGen ExAC |
|
CA375436606 rs377547961 |
160 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
CA5316168 rs377547961 |
160 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
rs144953516 COSM1106524 COSM1598124 CA5316166 |
162 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA5316164 rs757095462 |
163 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757095462 CA5316165 |
163 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs267602159 CA200991070 |
163 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs763759757 CA5316162 |
165 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 166 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752522017 CA5316160 |
168 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1199450170 CA375436545 |
169 | D>G | No |
ClinGen TOPMed |
|
TCGA novel | 170 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5316157 rs773614765 |
170 | D>N | No |
ClinGen ExAC gnomAD |
|
CA375436531 rs1229773234 |
171 | I>N | No |
ClinGen TOPMed gnomAD |
|
rs762083852 CA5316155 |
173 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA375436512 rs1407871213 |
174 | D>N | No |
ClinGen gnomAD |
|
rs774782605 CA5316154 |
176 | I>V | No |
ClinGen ExAC gnomAD |
|
CA375436483 rs1303256900 |
178 | V>M | No |
ClinGen gnomAD |
|
rs1360085814 CA375436469 |
180 | V>M | No |
ClinGen Ensembl |
|
CA200991041 rs947002482 |
184 | M>V | No |
ClinGen TOPMed |
|
rs1361068811 CA375436404 |
187 | Y>H | No |
ClinGen TOPMed |
|
CA5316112 CA200990138 rs765520477 |
188 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375436394 rs1210124682 |
188 | M>T | No |
ClinGen TOPMed |
|
CA200990140 rs971509748 |
188 | M>V | No |
ClinGen Ensembl |
|
rs760052704 CA5316111 |
189 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1232623564 CA375436372 |
190 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1232623564 CA375436373 |
190 | K>Q | No |
ClinGen TOPMed gnomAD |
|
CA5316081 rs775377110 |
191 | M>I | No |
ClinGen ExAC gnomAD |
|
CA5316080 rs769651196 |
195 | E>K | No |
ClinGen ExAC gnomAD |
|
CA375436315 rs1327297349 |
197 | D>E | No |
ClinGen gnomAD |
|
CA5316078 rs777730106 |
200 | N>T | No |
ClinGen ExAC gnomAD |
|
CA375436287 rs1316516211 |
201 | C>Y | No |
ClinGen Ensembl |
|
rs1234687506 CA375436237 |
208 | E>G | No |
ClinGen gnomAD |
|
CA5316074 rs755389222 |
210 | E>D | No |
ClinGen ExAC gnomAD |
|
CA5316075 rs779080016 |
210 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA375436201 rs1588206252 |
213 | Y>* | No |
ClinGen Ensembl |
|
rs754228976 CA5316073 |
214 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs756590609 CA5316071 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5316070 rs750925866 |
215 | R>H | No |
ClinGen ExAC gnomAD |
|
rs750925866 CA375436190 |
215 | R>L | No |
ClinGen ExAC gnomAD |
|
CA375436186 rs1401551520 |
216 | T>I | No |
ClinGen TOPMed |
|
rs1279682174 CA375436166 |
219 | D>G | No |
ClinGen gnomAD |
|
rs774196526 CA200989632 |
220 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs573725166 CA5316068 |
220 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA375436149 rs1564368166 |
222 | K>Q | No |
ClinGen Ensembl |
|
CA375435992 rs1250209692 |
223 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1189441446 CA375435987 |
224 | Y>H | No |
ClinGen gnomAD |
|
CA5316041 rs770926917 |
225 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375010179 CA200989024 |
225 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs1056608217 CA200989022 |
226 | S>I | No |
ClinGen gnomAD |
|
CA375435961 rs1291614851 |
227 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs760535339 CA5316040 |
227 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs760535339 CA375435965 |
227 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs546008982 CA5316037 |
229 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5316036 rs780290287 |
229 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs546008982 CA5316038 |
229 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA5316033 rs781370355 |
231 | V>G | No |
ClinGen ExAC gnomAD |
|
CA5316035 rs746265076 |
231 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5316034 rs746265076 |
231 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 232 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 232 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757844156 CA5316032 |
233 | S>I | No |
ClinGen ExAC gnomAD |
|
COSM1624683 rs200521072 COSM1624682 CA5316031 |
234 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs200521072 CA200989010 |
234 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs368899494 CA375435926 |
235 | A>E | No |
ClinGen ExAC gnomAD |
|
rs1301212214 CA375435927 |
235 | A>T | No |
ClinGen gnomAD |
|
CA5316029 rs368899494 |
235 | A>V | Variant assessed as Somatic; 4.672e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs759066470 CA5316026 |
236 | D>A | No |
ClinGen ExAC gnomAD |
|
CA5316027 rs759066470 |
236 | D>G | No |
ClinGen ExAC gnomAD |
|
rs766101488 CA5316024 |
237 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377331945 CA5316023 |
238 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1268880253 CA375435905 |
239 | A>P | No |
ClinGen gnomAD |
|
rs1220883003 CA375435898 |
240 | V>L | No |
ClinGen gnomAD |
|
CA5315989 rs199616982 |
246 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5315990 rs530224752 |
246 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA375435838 rs1258667667 |
247 | L>M | No |
ClinGen gnomAD |
|
CA375435808 rs1462613393 |
251 | H>R | No |
ClinGen gnomAD |
|
rs1210059973 CA375435801 |
252 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs767232783 CA5315986 |
252 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1356296947 CA375435768 |
257 | A>T | No |
ClinGen gnomAD |
|
CA375435749 rs1342081307 |
259 | D>E | No |
ClinGen gnomAD |
|
CA375435756 rs1168963554 |
259 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA375435753 rs1236759493 |
259 | D>V | No |
ClinGen gnomAD |
|
rs757231721 CA375435748 |
260 | V>L | No |
ClinGen ExAC gnomAD |
|
rs757231721 CA5315985 |
260 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 261 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5315984 rs751439753 |
261 | S>T | No |
ClinGen ExAC gnomAD |
|
rs759504644 CA375435737 |
262 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315982 rs759504644 |
262 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375435729 rs1319388006 |
263 | M>T | No |
ClinGen TOPMed |
|
rs1385733713 CA375435720 |
264 | V>G | No |
ClinGen gnomAD |
|
rs777044584 CA5315981 |
264 | V>M | No |
ClinGen ExAC gnomAD |
|
CA375435719 rs1564365196 |
265 | G>R | No |
ClinGen Ensembl |
|
rs143919789 CA5315979 |
266 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA375435707 rs1165943219 |
267 | S>G | No |
ClinGen gnomAD |
|
CA5315977 rs147505589 |
268 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5315978 rs773720874 |
268 | T>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 270 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375435673 rs1177409077 |
272 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1177409077 CA375435672 |
272 | V>G | No |
ClinGen TOPMed gnomAD |
|
rs1202807126 CA375435655 |
275 | D>G | No |
ClinGen gnomAD |
|
CA5315974 rs768260214 |
275 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA375435656 rs768260214 |
275 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs907198234 CA200988544 |
278 | E>G | No |
ClinGen TOPMed |
|
CA375435626 rs1453601686 |
279 | R>G | No |
ClinGen TOPMed |
|
CA5315972 rs779498711 |
279 | R>M | No |
ClinGen ExAC gnomAD |
|
CA375435608 rs1204960790 |
280 | L>I | No |
ClinGen gnomAD |
|
rs1376631871 CA375435591 |
282 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5315938 rs752628002 |
283 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1347264164 CA375435582 |
284 | G>R | No |
ClinGen gnomAD |
|
CA5315936 rs756227922 |
285 | E>D | No |
ClinGen ExAC gnomAD |
|
CA375435561 rs1379248664 |
287 | C>R | No |
ClinGen TOPMed |
|
rs1290753677 CA375435559 |
287 | C>Y | No |
ClinGen gnomAD |
|
rs376443625 CA5315935 |
289 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
rs1335528002 CA375435539 |
290 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs141016276 CA5315934 |
292 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1598126 COSM1106520 CA5315932 rs751902643 |
293 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs764471379 CA5315931 |
293 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315930 rs763501246 |
294 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs775944049 CA5315929 |
295 | N>D | No |
ClinGen ExAC gnomAD |
|
CA5315928 rs769359624 |
296 | T>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 296 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375435489 rs1469479782 |
297 | L>P | No |
ClinGen gnomAD |
|
CA375435482 rs1189308670 |
298 | N>K | No |
ClinGen gnomAD |
|
rs759032620 CA5315927 |
298 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1462841236 CA375435478 |
299 | Q>* | No |
ClinGen gnomAD |
|
CA375435474 rs1394793750 |
299 | Q>H | No |
ClinGen gnomAD |
|
CA5315926 rs776146802 |
300 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1291650134 CA375435465 |
301 | L>Q | No |
ClinGen TOPMed |
|
CA375435459 rs1321493519 |
302 | A>D | No |
ClinGen gnomAD |
|
CA375435457 rs1321493519 |
302 | A>V | No |
ClinGen gnomAD |
|
CA375435447 rs1350540931 |
304 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs150680379 CA5315924 |
304 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375435423 rs1564357856 |
307 | F>C | No |
ClinGen Ensembl |
|
TCGA novel | 311 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5315922 rs568453790 |
312 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5315886 rs754343989 |
313 | E>K | No |
ClinGen ExAC gnomAD |
|
CA375435364 rs1441178732 |
314 | C>G | No |
ClinGen TOPMed |
|
TCGA novel | 314 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765842927 CA5315885 |
315 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs34769896 CA200983250 |
316 | L>M | No |
ClinGen Ensembl |
|
CA375435350 rs1588187554 |
316 | L>R | No |
ClinGen Ensembl |
|
CA5315882 rs767286250 |
321 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375435281 rs1346890694 |
326 | Q>R | No |
ClinGen gnomAD |
|
rs148077598 CA5315881 |
328 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
CA5315880 rs143721504 |
330 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1428046965 CA375435255 |
331 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs768549731 CA5315879 |
332 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 334 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762839518 CA5315878 |
334 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs775492722 CA5315877 |
335 | R>K | No |
ClinGen ExAC gnomAD |
|
rs770973334 CA5315876 |
336 | V>L | No |
ClinGen ExAC gnomAD |
|
CA375435205 rs1261055802 |
338 | K>N | No |
ClinGen gnomAD |
|
rs1457518292 CA375435193 |
340 | H>Y | No |
ClinGen TOPMed |
|
rs1239641767 CA375435181 |
342 | L>V | No |
ClinGen TOPMed |
|
rs1305365070 CA375435164 |
344 | K>M | No |
ClinGen gnomAD |
|
rs752565749 CA5315840 |
345 | E>D | No |
ClinGen ExAC gnomAD |
|
CA5315841 rs372614789 |
345 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA5315839 rs764890175 |
346 | L>F | No |
ClinGen ExAC gnomAD |
|
CA5315838 rs759515348 |
347 | L>V | No |
ClinGen ExAC gnomAD |
|
CA375434964 rs1260003591 |
348 | S>N | No |
ClinGen gnomAD |
|
CA375434963 rs1260003591 |
348 | S>T | No |
ClinGen gnomAD |
|
rs61761612 CA5315837 |
349 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315836 rs767645931 |
350 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA5315835 rs367789551 |
351 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375434932 rs749425031 |
353 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315832 rs749425031 |
353 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315833 rs200570910 |
353 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA375434910 rs1367813154 |
357 | Q>E | No |
ClinGen gnomAD |
|
rs201146753 CA5315828 |
358 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5315827 rs757780660 |
359 | L>P | No |
ClinGen ExAC gnomAD |
|
CA200982865 rs1004482095 |
367 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs754562539 CA5315804 |
370 | A>V | No |
ClinGen ExAC gnomAD |
|
rs766115923 CA5315802 |
371 | M>I | No |
ClinGen ExAC gnomAD |
|
CA375434800 rs1176170688 |
371 | M>L | No |
ClinGen TOPMed |
|
rs1386577376 CA375434791 |
372 | Y>H | No |
ClinGen TOPMed |
|
rs756096553 CA5315801 |
373 | I>V | No |
ClinGen ExAC gnomAD |
|
rs752765700 COSM3413431 COSM3413432 CA5315797 |
378 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
CA5315798 rs142018797 |
378 | R>W | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA375434734 rs1234422985 |
380 | K>R | No |
ClinGen gnomAD |
|
rs765560617 CA5315796 |
381 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs759792457 CA5315795 |
382 | T>A | No |
ClinGen ExAC gnomAD |
|
rs761281648 CA5315792 |
391 | S>N | No |
ClinGen ExAC gnomAD |
|
rs369424247 CA200981611 |
392 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
rs369424247 CA375434646 |
392 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
CA5315789 rs747621286 |
393 | I>M | No |
ClinGen ExAC gnomAD |
|
CA5315790 rs138063876 |
393 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 395 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778358319 CA5315788 |
396 | L>S | No |
ClinGen ExAC gnomAD |
|
rs145444804 CA5315761 |
398 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1244385929 CA375434400 |
398 | V>M | No |
ClinGen gnomAD |
|
CA375434383 rs1488229094 |
400 | L>R | No |
ClinGen gnomAD |
|
CA5315760 rs755102034 |
401 | E>G | No |
ClinGen ExAC gnomAD |
|
rs754168996 CA5315759 |
402 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375434371 rs1359711568 |
402 | E>V | No |
ClinGen gnomAD |
|
CA200980826 rs267602158 |
410 | G>R | No |
ClinGen Ensembl |
|
rs1226172352 CA375434304 |
412 | L>V | No |
ClinGen gnomAD |
|
CA5315757 rs756289741 |
415 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1363424884 COSM1701901 CA375434285 COSM1701900 |
415 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA5315755 rs767906649 |
416 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA375434274 rs1366492152 |
417 | I>T | No |
ClinGen gnomAD |
|
rs375096471 CA5315754 |
417 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
rs774837732 CA5315753 |
419 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1588175826 CA375434257 |
420 | H>N | No |
ClinGen Ensembl |
|
CA5315752 rs763654070 |
421 | T>I | No |
ClinGen ExAC gnomAD |
|
rs574299407 CA5315750 |
423 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5315749 rs745475435 |
424 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776337749 CA5315747 |
425 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA200980478 rs935832395 |
426 | Y>* | No |
ClinGen Ensembl |
|
CA200980476 rs768507686 |
428 | F>L | No |
ClinGen Ensembl |
|
CA5315710 rs760360468 |
433 | V>A | No |
ClinGen ExAC gnomAD |
|
rs771963894 CA375434013 |
435 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375434026 rs1267642044 |
435 | I>V | No |
ClinGen TOPMed |
|
CA5315706 rs761914102 |
436 | V>I | No |
ClinGen ExAC gnomAD |
|
CA5315709 rs762688041 |
437 | C>* | No |
ClinGen ExAC |
|
rs768420549 CA5315704 |
439 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315703 rs138761889 |
439 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs768420549 CA5315705 |
439 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781095040 CA5315702 |
440 | K>R | No |
ClinGen ExAC gnomAD |
|
CA5315700 rs747209081 |
443 | S>G | No |
ClinGen ExAC gnomAD |
|
rs56296048 CA375433890 |
444 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758756932 CA5315698 |
445 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1402193576 CA375433870 |
446 | L>F | No |
ClinGen gnomAD |
|
CA375433821 rs1301583073 |
449 | I>N | No |
ClinGen TOPMed gnomAD |
|
rs949387662 CA200980456 CA375433788 |
451 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA5315695 rs755369467 |
451 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1486130935 CA375433671 CA375433670 |
459 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA5315689 rs761718058 |
459 | D>N | No |
ClinGen ExAC gnomAD |
|
rs773952259 CA5315688 |
460 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA375433634 rs1228990434 |
462 | M>L | No |
ClinGen TOPMed |
|
rs1287802834 CA375433612 |
463 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs762753188 CA5315686 |
464 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 465 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375433578 rs1172044202 |
466 | D>V | No |
ClinGen gnomAD |
|
rs201764323 CA5315684 |
467 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375433575 rs150924742 |
467 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA5315685 rs150924742 |
467 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777957288 CA5315682 |
468 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs1458249565 CA375433102 |
471 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA200980170 rs935532382 |
472 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5315604 rs764213656 |
478 | G>A | No |
ClinGen ExAC gnomAD |
|
CA375432845 rs764213656 |
478 | G>D | No |
ClinGen ExAC gnomAD |
|
rs186434110 COSM1155095 COSM1106516 CA5315605 |
478 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1320534584 CA375432823 |
480 | Y>H | No |
ClinGen gnomAD |
|
CA375432788 rs1350620440 |
482 | I>S | No |
ClinGen gnomAD |
|
rs1340851644 CA375432777 |
483 | H>R | No |
ClinGen TOPMed |
|
rs1403666390 CA375432762 |
484 | L>P | No |
ClinGen gnomAD |
|
rs767478307 CA200978320 |
486 | G>E | No |
ClinGen Ensembl |
|
rs776987604 CA5315599 |
486 | G>R | No |
ClinGen ExAC gnomAD |
|
rs771536985 CA5315594 |
499 | M>T | No |
ClinGen ExAC gnomAD |
|
CA5315591 rs768234718 |
504 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315593 rs774008253 |
504 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375432473 rs1218813414 |
504 | M>L | No |
ClinGen gnomAD |
|
rs774008253 CA5315592 |
504 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315590 rs140877645 |
505 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779854047 CA5315589 |
511 | M>T | No |
ClinGen ExAC gnomAD |
|
CA375432242 rs1588169455 |
512 | S>A | No |
ClinGen Ensembl |
|
rs144398774 CA5315564 |
515 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5315562 rs150054284 |
520 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375432126 rs1254038497 |
520 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA200977986 rs562583711 |
521 | A>T | No |
ClinGen 1000Genomes |
|
rs1588169418 CA375432110 |
521 | A>V | No |
ClinGen Ensembl |
|
CA375432085 rs1364781694 |
523 | H>D | No |
ClinGen gnomAD |
|
CA375432037 rs1392794706 |
526 | F>V | No |
ClinGen Ensembl |
|
CA5315559 rs184909763 |
528 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs750245667 CA200977983 |
530 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA375431967 rs750245667 |
530 | T>R | No |
ClinGen TOPMed gnomAD |
|
rs191239028 CA5315556 |
532 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5315557 rs773904390 |
532 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1378997392 CA375431917 |
534 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA5315555 rs372445285 |
535 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375431895 rs1360828074 |
536 | N>D | No |
ClinGen gnomAD |
|
rs1157646248 CA375431876 |
537 | C>Y | No |
ClinGen gnomAD |
|
rs1451130243 CA375431850 |
539 | A>T | No |
ClinGen gnomAD |
|
CA200977977 rs986093528 |
541 | K>E | No |
ClinGen Ensembl |
|
TCGA novel | 544 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759464787 CA5315551 |
544 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375431762 rs1301910148 |
544 | L>R | No |
ClinGen TOPMed |
|
CA375431345 rs1332516679 |
546 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs1332516679 CA375431346 |
546 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA200977786 rs969726282 |
547 | T>I | No |
ClinGen gnomAD |
|
rs1385769740 CA375431327 |
549 | Y>C | No |
ClinGen gnomAD |
|
CA375431312 rs1391688105 |
551 | G>A | No |
ClinGen gnomAD |
|
rs202226819 CA5315520 |
553 | M>T | No |
ClinGen 1000Genomes ExAC |
|
TCGA novel | 553 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757608619 CA5315521 |
553 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1471767990 CA375431276 |
556 | K>R | No |
ClinGen TOPMed |
|
rs1167345356 CA375431262 |
558 | G>C | No |
ClinGen TOPMed |
|
rs1024006695 CA200977780 |
558 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA375431258 rs758789048 |
559 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315518 rs758789048 |
559 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315515 rs754695036 |
560 | G>A | No |
ClinGen ExAC gnomAD |
|
CA375431251 rs754695036 |
560 | G>E | No |
ClinGen ExAC gnomAD |
|
CA5315516 rs376689003 |
560 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA5315513 rs766333869 |
561 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766333869 CA5315514 |
561 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1251236031 CA375431226 |
564 | E>G | No |
ClinGen gnomAD |
|
CA375431198 rs1348306895 |
568 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1348306895 CA375431197 |
568 | V>G | No |
ClinGen TOPMed gnomAD |
|
rs760558503 CA200977773 |
568 | V>L | No |
ClinGen ExAC gnomAD |
|
CA5315512 rs760558503 |
568 | V>M | No |
ClinGen ExAC gnomAD |
|
rs773103360 CA5315511 |
569 | I>L | No |
ClinGen ExAC gnomAD |
|
CA375431187 rs1232395967 |
570 | P>L | No |
ClinGen TOPMed |
|
CA200977770 rs374011637 |
570 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5315510 rs374011637 |
570 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1256918027 CA375431165 |
573 | K>N | No |
ClinGen gnomAD |
|
rs1232105362 CA375431155 |
575 | T>A | No |
ClinGen gnomAD |
|
rs1352670554 CA375430541 |
577 | P>L | No |
ClinGen Ensembl |
|
rs1412693042 CA375430546 |
577 | P>S | No |
ClinGen gnomAD |
|
CA375430533 rs1310708370 |
578 | A>E | No |
ClinGen TOPMed gnomAD |
|
CA5315481 rs776654627 |
580 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414688677 CA375429963 |
581 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs776157987 CA375429938 |
582 | A>P | No |
ClinGen ExAC gnomAD |
|
rs776157987 CA5315437 |
582 | A>T | No |
ClinGen ExAC gnomAD |
|
rs745404223 COSM3395652 CA5315435 COSM3395651 |
584 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA5315434 rs146078250 |
585 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs548048956 CA5315433 |
585 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1348939836 CA375429815 |
588 | G>R | No |
ClinGen TOPMed gnomAD |
|
COSM1727178 COSM1727179 rs749245786 CA5315408 |
590 | K>N | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs781187663 CA5315407 |
591 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757372611 CA5315406 |
592 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1351582845 CA375429545 |
593 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA375429539 rs602990 |
594 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375429537 rs1474814044 |
594 | M>T | No |
ClinGen gnomAD |
|
VAR_045690 rs602990 CA5315404 |
594 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA375429526 rs1415417405 |
595 | Q>* | No |
ClinGen gnomAD |
|
CA375429484 rs1588162619 |
597 | Y>S | No |
ClinGen Ensembl |
|
rs948700593 CA200976015 |
598 | H>R | No |
ClinGen Ensembl |
|
CA375429446 rs1478965365 |
599 | G>D | No |
ClinGen gnomAD |
|
CA375429429 rs1588162602 |
600 | N>T | No |
ClinGen Ensembl |
|
rs1262681533 CA375429413 |
601 | P>S | No |
ClinGen gnomAD |
|
CA5315403 rs758647095 |
602 | A>V | No |
ClinGen ExAC gnomAD |
|
CA200976012 rs917121261 |
603 | P>A | No |
ClinGen Ensembl |
|
CA5315402 rs753165273 |
603 | P>L | No |
ClinGen ExAC gnomAD |
|
CA5315401 rs765602760 |
604 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148238092 CA5315398 |
605 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5315399 COSM1232203 rs148238092 COSM1232202 |
605 | G>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA375429309 rs1484927694 |
608 | V>A | No |
ClinGen TOPMed |
|
CA5315397 rs760181556 |
608 | V>L | No |
ClinGen ExAC gnomAD |
|
rs772668402 CA5315396 |
610 | T>I | No |
ClinGen ExAC gnomAD |
|
rs771733049 CA5315395 |
611 | F>L | No |
ClinGen ExAC gnomAD |
|
CA5315394 rs747775389 |
612 | Q>L | No |
ClinGen ExAC |
|
rs774081477 CA5315393 |
613 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs569003098 CA5315391 |
614 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA200975983 rs978842166 |
615 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs747112648 CA5315388 |
616 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA375429162 rs1554770506 |
617 | L>F | No |
ClinGen Ensembl |
|
CA5315385 rs752960944 |
621 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755378842 CA5315383 |
623 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1194332682 CA375429054 |
624 | P>S | No |
ClinGen gnomAD |
|
rs766939641 CA5315381 |
627 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1200959100 CA375429018 |
629 | W>R | No |
ClinGen gnomAD |
|
CA375427983 rs1485961160 |
631 | G>V | No |
ClinGen TOPMed |
|
rs749439328 CA5315348 |
632 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5315347 rs780462649 |
632 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756485000 CA5315346 |
633 | L>V | Variant assessed as Somatic; 9.266e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs137947314 CA5315345 |
635 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1209739418 CA375427868 |
641 | Y>F | No |
ClinGen gnomAD |
|
CA375427853 rs1484446568 |
642 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs757658966 CA5315343 |
643 | P>L | No |
ClinGen ExAC gnomAD |
|
rs752274958 CA5315339 |
651 | P>S | No |
ClinGen ExAC gnomAD |
|
CA375427672 rs1175926019 |
652 | V>G | No |
ClinGen TOPMed |
|
CA5315338 rs764920694 |
652 | V>M | No |
ClinGen ExAC gnomAD |
|
rs745423288 CA200975353 |
653 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA375427643 rs1414405918 |
653 | D>G | No |
ClinGen gnomAD |
|
rs776525103 CA5315336 |
654 | G>R | No |
ClinGen ExAC |
|
CA375427612 rs1320441021 |
654 | G>V | No |
ClinGen gnomAD |
|
rs766440261 CA5315335 |
655 | R>G | No |
ClinGen ExAC gnomAD |
|
CA375427603 rs1564335031 |
655 | R>K | No |
ClinGen Ensembl |
|
rs150295787 | 656 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs201540300 CA5315309 |
656 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375427123 rs1372412547 |
657 | P>A | No |
ClinGen gnomAD |
|
CA5315306 rs190108958 |
660 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5315305 rs190108958 |
660 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs770053214 CA5315307 |
660 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315304 rs145700399 |
661 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA200974609 rs955136607 |
662 | P>L | No |
ClinGen TOPMed |
|
rs778142385 CA5315302 |
663 | S>C | No |
ClinGen ExAC gnomAD |
|
CA5315300 rs147799977 |
664 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5315301 rs772588253 |
664 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315298 rs144269361 |
666 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA375426994 rs1454312993 |
666 | I>V | No |
ClinGen gnomAD |
|
rs779956188 CA5315296 |
667 | D>G | No |
ClinGen ExAC gnomAD |
|
CA5315297 rs142558070 |
667 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5315295 rs755866286 |
669 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375426972 rs1348655623 |
669 | T>S | No |
ClinGen TOPMed |
|
rs1272714390 CA375426969 |
670 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA375426958 rs1348710701 |
671 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs752817573 CA5315291 |
672 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1217979822 CA375426953 |
672 | P>S | No |
ClinGen gnomAD |
|
CA200974546 rs1046012161 |
673 | W>S | No |
ClinGen TOPMed |
|
rs769246708 CA375426443 |
678 | M>K | No |
ClinGen ExAC gnomAD |
|
CA5315264 rs769246708 |
678 | M>T | No |
ClinGen ExAC gnomAD |
|
rs748829750 CA5315263 |
683 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs769373042 CA5315261 |
685 | N>S | No |
ClinGen ExAC gnomAD |
|
rs769373042 CA375426196 |
685 | N>T | No |
ClinGen ExAC gnomAD |
|
rs1310178015 CA375426172 |
686 | L>V | No |
ClinGen gnomAD |
|
CA5315259 rs780909333 |
689 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375426104 rs1588157572 |
689 | S>P | No |
ClinGen Ensembl |
|
rs7875953 CA5315258 |
690 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142993722 CA200973890 |
691 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142993722 CA5315256 |
691 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5315255 rs758279112 |
691 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766448838 CA5315253 |
693 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375425951 rs937643733 |
694 | T>P | No |
ClinGen Ensembl |
|
rs937643733 CA200973840 |
694 | T>S | No |
ClinGen Ensembl |
|
rs1471922738 CA375425802 |
699 | E>V | No |
ClinGen gnomAD |
|
COSM1460879 rs1162980032 COSM1460878 CA375425776 |
700 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
COSM1598129 CA375425786 COSM1106512 rs1564332755 |
700 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
CA200973828 rs927504022 |
701 | P>L | No |
ClinGen Ensembl |
|
CA5315251 rs750643570 |
702 | A>S | No |
ClinGen ExAC gnomAD |
|
rs762272210 CA5315249 |
703 | E>K | No |
ClinGen ExAC gnomAD |
|
rs764747022 CA5315247 |
704 | A>T | No |
ClinGen ExAC gnomAD |
|
rs369246487 CA5315245 |
706 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5315244 rs769335699 |
706 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375425566 rs1266345573 |
709 | I>M | No |
ClinGen Ensembl |
|
rs1029016039 CA200973796 |
709 | I>V | No |
ClinGen TOPMed |
|
CA5315243 rs745312826 |
710 | S>N | No |
ClinGen ExAC gnomAD |
|
CA375425535 rs1307709067 |
711 | I>L | No |
ClinGen gnomAD |
|
rs1294299323 CA375425507 |
712 | K>R | No |
ClinGen gnomAD |
|
CA5315200 rs751820840 |
714 | N>H | No |
ClinGen ExAC gnomAD |
|
rs758798561 CA5315198 |
714 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758798561 CA5315199 |
714 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA200970939 rs1012487581 |
720 | I>V | No |
ClinGen TOPMed |
|
rs759935502 CA5315195 |
723 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 723 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765866512 CA5315193 |
725 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760375847 CA5315191 |
731 | I>N | No |
ClinGen ExAC gnomAD |
|
rs1411696176 CA375424038 |
732 | T>I | No |
ClinGen gnomAD |
|
rs902666283 CA200970911 |
738 | D>N | No |
ClinGen TOPMed |
|
rs140004145 CA200970909 |
739 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140004145 CA5315188 |
739 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1186280431 CA375423905 |
739 | S>I | No |
ClinGen gnomAD |
|
CA375423902 rs1199188591 |
739 | S>R | No |
ClinGen TOPMed |
|
rs867032627 CA200970901 |
740 | L>F | No |
ClinGen Ensembl |
|
rs749975481 CA375423525 |
743 | L>F | No |
ClinGen ExAC gnomAD |
|
CA5315151 rs766933645 |
744 | V>G | No |
ClinGen ExAC |
|
rs56300187 CA200969228 |
746 | Y>* | No |
ClinGen Ensembl |
|
TCGA novel | 746 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1588152493 CA375423492 |
746 | Y>D | No |
ClinGen Ensembl |
|
CA375423438 rs1168032692 |
750 | H>D | No |
ClinGen gnomAD |
|
CA5315148 rs763737747 |
750 | H>L | No |
ClinGen ExAC gnomAD |
|
rs764218046 CA200969201 |
751 | S>L | No |
ClinGen Ensembl |
|
rs1468809405 CA375423405 |
755 | S>G | No |
ClinGen gnomAD |
|
CA5315146 rs775372990 |
755 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1283428476 CA375423368 |
760 | D>Y | No |
ClinGen gnomAD |
|
CA375423359 rs1275345661 |
761 | T>S | No |
ClinGen gnomAD |
|
CA200969106 rs773411427 |
762 | T>I | No |
ClinGen ExAC gnomAD |
|
rs773411427 CA5315143 |
762 | T>K | No |
ClinGen ExAC gnomAD |
|
rs1020408130 CA200969098 |
763 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA375423349 rs1295409239 |
763 | L>P | No |
ClinGen gnomAD |
|
rs772034314 CA5315142 |
764 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 764 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs972602439 CA200969097 |
765 | Y>* | No |
ClinGen Ensembl |
|
CA375423332 rs1274679832 |
766 | P>A | No |
ClinGen gnomAD |
|
CA375423320 rs1366276670 |
767 | Y>* | No |
ClinGen gnomAD |
|
TCGA novel | 767 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5315139 rs202215285 |
770 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5315140 rs774443032 |
770 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5315138 rs749677179 |
771 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1428639992 CA375423302 |
771 | E>K | No |
ClinGen gnomAD |
|
CA375423293 COSM1151240 rs1174972227 COSM753259 |
772 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA5315137 rs780374809 |
772 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756680997 CA5315136 |
773 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs142833769 CA200969074 |
774 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs781681211 CA375423278 |
775 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375423279 rs781681211 |
775 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781681211 CA5315134 |
775 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315132 rs751038492 |
776 | R>G | No |
ClinGen ExAC gnomAD |
|
CA5315131 rs777588088 |
777 | A>P | No |
ClinGen ExAC gnomAD |
|
CA375423260 rs1217927063 |
778 | S>C | No |
ClinGen gnomAD |
|
rs200274692 CA5315130 |
778 | S>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 779 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765122995 CA375423250 |
780 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315126 rs767880414 |
780 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs765122995 CA5315127 |
780 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs866421862 CA200969024 |
781 | S>C | No |
ClinGen Ensembl |
|
CA375422257 rs1456299174 |
785 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1294246832 CA375422187 |
788 | Y>C | No |
ClinGen TOPMed gnomAD |
|
COSM455561 CA375422158 rs1215778665 |
789 | N>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA375422085 rs1332532896 |
792 | F>V | No |
ClinGen TOPMed |
|
CA5315099 rs531614938 |
792 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs777028727 CA5315098 |
793 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370841001 CA5315095 |
794 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA375422020 rs1458657832 |
795 | P>S | No |
ClinGen gnomAD |
|
CA375421985 rs1328349315 |
797 | G>C | No |
ClinGen TOPMed |
|
CA5315092 rs377647835 |
798 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 801 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200411313 CA5315090 |
801 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 803 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA375421866 rs1210783594 |
804 | G>A | No |
ClinGen gnomAD |
|
rs749087475 CA5315088 |
804 | G>S | No |
ClinGen ExAC gnomAD |
|
CA375421844 rs1206118288 |
806 | S>T | No |
ClinGen gnomAD |
|
CA5315083 rs372641201 |
807 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs183141718 CA5315085 |
807 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5315084 rs183141718 |
807 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372641201 CA200966411 |
807 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375421836 rs1373077557 |
808 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs758502385 CA5315082 |
809 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1588151280 CA375421811 |
811 | S>L | No |
ClinGen Ensembl |
|
CA5315048 rs564689902 |
814 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5315046 rs746931943 |
815 | P>S | No |
ClinGen ExAC gnomAD |
|
CA5315045 rs191274326 |
816 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs202055327 CA5315044 |
816 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs780349466 CA5315042 |
817 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3774355 CA5315040 rs61751477 COSM3774356 |
818 | I>M | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs148033881 CA5315039 |
819 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148033881 CA5315038 |
819 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 821 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs934946882 CA200965647 |
823 | A>T | No |
ClinGen Ensembl |
|
rs201135054 CA200965640 |
824 | R>G | No |
ClinGen Ensembl |
|
rs978997426 CA200965639 |
825 | Y>C | No |
ClinGen Ensembl |
|
CA5315034 rs774838611 |
828 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1415577020 CA375421583 |
829 | A>T | No |
ClinGen TOPMed |
|
CA5315032 rs146994870 |
830 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374240487 CA5315031 |
830 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
CA375421537 rs746743644 |
832 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746743644 CA5315029 |
832 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746362083 CA200965568 |
834 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs201638694 CA200965560 |
835 | L>I | No |
ClinGen 1000Genomes |
|
COSM168874 CA5315027 rs771858287 |
836 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA200965538 rs371905656 |
837 | L>M | No |
ClinGen ESP |
|
rs138753594 CA5315023 |
838 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756471330 CA5315024 |
838 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781497372 CA5315022 |
839 | E>A | No |
ClinGen ExAC TOPMed |
|
rs1318958505 CA375421410 |
840 | G>D | No |
ClinGen gnomAD |
|
CA5315021 CA5315020 rs764709519 |
841 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315018 rs145738821 COSM1145262 COSM608167 |
842 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs145738821 CA5315017 |
842 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 843 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5315016 rs375495204 |
844 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1471533924 CA375421320 |
846 | Y>C | No |
ClinGen gnomAD |
|
rs1471533924 CA375421322 |
846 | Y>S | No |
ClinGen gnomAD |
|
CA375421300 rs1391413151 |
847 | S>R | No |
ClinGen gnomAD |
|
rs149037213 CA5315015 |
848 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1448786149 CA375421291 |
848 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1448786149 CA375421287 |
848 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs765980821 CA5315014 |
849 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs9722384 CA375421275 |
849 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765980821 CA5315013 |
849 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5315011 rs150483592 |
850 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748032251 CA5315009 |
851 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1229876435 CA375421231 |
852 | D>G | No |
ClinGen gnomAD |
|
rs1299832987 CA375421239 |
852 | D>Y | No |
ClinGen gnomAD |
|
CA200965433 rs151297491 |
853 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
CA200965430 rs781431537 |
853 | Q>L | No |
ClinGen gnomAD |
|
CA200965429 rs180805365 |
854 | G>S | No |
ClinGen 1000Genomes |
|
CA375421171 rs1588150235 |
856 | W>G | No |
ClinGen Ensembl |
|
rs1350779241 CA375421139 |
858 | G>C | No |
ClinGen gnomAD |
|
CA5315004 rs757529218 |
859 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1057144078 CA200965413 |
860 | T>I | No |
ClinGen gnomAD |
|
rs201927799 CA5315002 |
862 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs765663291 CA5314999 |
863 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1192809186 CA375421052 |
863 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1192809186 CA375421057 |
863 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA5315000 rs765663291 |
863 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1564321914 CA375419452 |
866 | W>G | No |
ClinGen Ensembl |
|
CA5314964 rs751377141 |
867 | F>V | No |
ClinGen ExAC gnomAD |
|
rs762978617 CA5314962 |
868 | P>S | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs143833447 CA5314960 |
870 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs752528032 CA5314957 |
872 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA375419381 rs752528032 |
872 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs867276571 CA200961722 |
874 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1412357683 CA375419328 |
876 | G>A | No |
ClinGen gnomAD |
|
rs1356034282 CA375419335 |
876 | G>R | No |
ClinGen TOPMed |
|
rs748565136 CA5314956 |
877 | I>N | No |
ClinGen ExAC gnomAD |
|
CA200961707 rs961760785 |
878 | Q>R | No |
ClinGen TOPMed |
|
rs1564321774 CA375419281 |
879 | Q>G | No |
ClinGen Ensembl |
No associated diseases with P52735
14 regional properties for P52735
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 621 - 884 | IPR000719 |
domain | Ephrin receptor ligand binding domain | 20 - 202 | IPR001090 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 622 - 880 | IPR001245 |
conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 178 - 198 | IPR001426-1 |
conserved_site | Tyrosine-protein kinase, receptor class V, conserved site | 241 - 261 | IPR001426-2 |
domain | Sterile alpha motif domain | 910 - 977 | IPR001660 |
domain | Fibronectin type III | 324 - 434 | IPR003961-1 |
domain | Fibronectin type III | 435 - 530 | IPR003961-2 |
active_site | Tyrosine-protein kinase, active site | 742 - 754 | IPR008266 |
domain | Tyrosine-protein kinase ephrin type A/B receptor-like | 268 - 302 | IPR011641 |
binding_site | Protein kinase, ATP binding site | 627 - 653 | IPR017441 |
domain | Tyrosine-protein kinase, catalytic domain | 621 - 880 | IPR020635 |
domain | Ephrin receptor, transmembrane domain | 544 - 617 | IPR027936 |
domain | Ephrin type-B receptor 2, ligand binding domain | 19 - 196 | IPR034238 |
3 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
Name | Definition |
---|---|
epidermal growth factor receptor binding | Binding to an epidermal growth factor receptor. |
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. |
metal ion binding | Binding to a metal ion. |
phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
14 GO annotations of biological process
Name | Definition |
---|---|
angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
Fc-epsilon receptor signaling pathway | The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region. |
Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
regulation of cell size | Any process that modulates the size of a cell. |
regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
small GTPase-mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
8 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9NHV9 | Vav | Protein vav | Drosophila melanogaster (Fruit fly) | SS |
P15498 | VAV1 | Proto-oncogene vav | Homo sapiens (Human) | EV SS |
Q9UKW4 | VAV3 | Guanine nucleotide exchange factor VAV3 | Homo sapiens (Human) | SS |
P27870 | Vav1 | Proto-oncogene vav | Mus musculus (Mouse) | EV |
Q9R0C8 | Vav3 | Guanine nucleotide exchange factor VAV3 | Mus musculus (Mouse) | SS |
Q60992 | Vav2 | Guanine nucleotide exchange factor VAV2 | Mus musculus (Mouse) | SS |
P54100 | Vav1 | Proto-oncogene vav | Rattus norvegicus (Rat) | SS |
Q45FX5 | vav-1 | Protein vav-1 | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MEQWRQCGRW | LIDCKVLPPN | HRVVWPSAVV | FDLAQALRDG | VLLCQLLHNL | SPGSIDLKDI |
70 | 80 | 90 | 100 | 110 | 120 |
NFRPQMSQFL | CLKNIRTFLK | VCHDKFGLRN | SELFDPFDLF | DVRDFGKVIS | AVSRLSLHSI |
130 | 140 | 150 | 160 | 170 | 180 |
AQNKGIRPFP | SEETTENDDD | VYRSLEELAD | EHDLGEDIYD | CVPCEDGGDD | IYEDIIKVEV |
190 | 200 | 210 | 220 | 230 | 240 |
QQPMIRYMQK | MGMTEDDKRN | CCLLEIQETE | AKYYRTLEDI | EKNYMSPLRL | VLSPADMAAV |
250 | 260 | 270 | 280 | 290 | 300 |
FINLEDLIKV | HHSFLRAIDV | SVMVGGSTLA | KVFLDFKERL | LIYGEYCSHM | EHAQNTLNQL |
310 | 320 | 330 | 340 | 350 | 360 |
LASREDFRQK | VEECTLKVQD | GKFKLQDLLV | VPMQRVLKYH | LLLKELLSHS | AERPERQQLK |
370 | 380 | 390 | 400 | 410 | 420 |
EALEAMQDLA | MYINEVKRDK | ETLRKISEFQ | SSIENLQVKL | EEFGRPKIDG | ELKVRSIVNH |
430 | 440 | 450 | 460 | 470 | 480 |
TKQDRYLFLF | DKVVIVCKRK | GYSYELKEII | ELLFHKMTDD | PMNNKDVKKS | HGKMWSYGFY |
490 | 500 | 510 | 520 | 530 | 540 |
LIHLQGKQGF | QFFCKTEDMK | RKWMEQFEMA | MSNIKPDKAN | ANHHSFQMYT | FDKTTNCKAC |
550 | 560 | 570 | 580 | 590 | 600 |
KMFLRGTFYQ | GYMCTKCGVG | AHKECLEVIP | PCKFTSPADL | DASGAGPGPK | MVAMQNYHGN |
610 | 620 | 630 | 640 | 650 | 660 |
PAPPGKPVLT | FQTGDVLELL | RGDPESPWWE | GRLVQTRKSG | YFPSSSVKPC | PVDGRPPISR |
670 | 680 | 690 | 700 | 710 | 720 |
PPSREIDYTA | YPWFAGNMER | QQTDNLLKSH | ASGTYLIRER | PAEAERFAIS | IKFNDEVKHI |
730 | 740 | 750 | 760 | 770 | 780 |
KVVEKDNWIH | ITEAKKFDSL | LELVEYYQCH | SLKESFKQLD | TTLKYPYKSR | ERSASRASSR |
790 | 800 | 810 | 820 | 830 | 840 |
SPASCASYNF | SFLSPQGLSF | ASQGPSAPFW | SVFTPRVIGT | AVARYNFAAR | DMRELSLREG |
850 | 860 | 870 | |||
DVVRIYSRIG | GDQGWWKGET | NGRIGWFPST | YVEEEGIQ |