Q8TE67
PR
Gene name |
EPS8L3 (EPS8R3) |
Protein name |
Epidermal growth factor receptor kinase substrate 8-like protein 3 |
Names |
EPS8-like protein 3, Epidermal growth factor receptor pathway substrate 8-related protein 3, EPS8-related protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79574 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q8TE67
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WXT | NMR | - | A | 453-507 | PDB |
| AF-Q8TE67-F1 | Predicted | AlphaFoldDB |
550 variants for Q8TE67
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1650987435 VAR_083829 RCV001030441 |
8 | A>T | Hypotrichosis 5 HYPT5; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA341555921 rs1387322382 |
2 | S>* | No |
ClinGen TOPMed |
|
|
CA341555895 rs935252097 |
4 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA28712251 rs935252097 |
4 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs150739953 CA995803 |
5 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1367579285 CA341555874 |
5 | S>N | No |
ClinGen gnomAD |
|
|
rs141216988 CA28712248 |
7 | R>I | No |
ClinGen 1000Genomes |
|
|
CA341555836 rs1303808354 |
8 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1303808354 CA341555834 COSM122885 |
8 | A>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs530677233 CA995801 |
9 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA995800 rs565095785 |
10 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA995774 rs761644372 |
11 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199652500 CA995773 |
12 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA995771 rs763054655 |
13 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764444614 CA995772 |
13 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1423495967 CA341555664 |
15 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA995769 rs369095233 |
16 | Y>H | Variant assessed as Somatic; 0.0001864 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 17 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866017793 CA28712115 |
19 | N>Y | No |
ClinGen Ensembl |
|
|
CA995767 rs777053597 |
20 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs374606751 CA995766 |
20 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA995762 rs149169025 |
22 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754713077 CA995763 |
22 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754713077 CA995764 |
22 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995760 rs755621159 |
23 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA995759 rs200226551 |
24 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341555487 rs1239787507 |
24 | P>S | No |
ClinGen gnomAD |
|
|
rs751440256 CA995756 |
25 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA995757 rs757255729 |
25 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA341555464 rs1320267881 |
26 | L>F | No |
ClinGen gnomAD |
|
|
rs763258032 CA995754 |
29 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763773882 CA995755 |
29 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA995753 rs775532202 |
30 | R>G | No |
ClinGen ExAC |
|
|
CA28712061 rs868789985 COSM1600512 |
32 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA995725 rs762144613 |
34 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs17598321 VAR_050976 CA995724 |
35 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA28710820 rs912218012 |
35 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1398411240 CA341554922 |
36 | T>A | No |
ClinGen gnomAD |
|
|
CA995723 rs774419101 |
36 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745492969 CA995722 |
37 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914327384 CA28710813 |
39 | Q>K | No |
ClinGen gnomAD |
|
|
CA995720 rs374644092 |
40 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780871705 CA995721 |
40 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777511542 CA995718 |
41 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758339893 CA995717 |
46 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM674434 rs755219686 CA341554784 |
48 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA995713 rs754022702 |
48 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs755219686 CA995714 |
48 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA995712 rs766453659 |
50 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs139866399 CA995710 |
51 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75718950 CA995709 |
55 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341554731 rs1451563967 |
55 | F>L | No |
ClinGen gnomAD |
|
|
CA995708 rs762350313 |
56 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341554718 rs1178929125 |
57 | M>T | No |
ClinGen gnomAD |
|
|
rs774627822 CA995707 |
58 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs769091542 CA995705 |
60 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs202174892 CA995703 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs562928637 CA995704 |
62 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570701186 CA341554658 |
63 | V>G | No |
ClinGen Ensembl |
|
|
CA341554646 rs1460304020 |
64 | W>* | No |
ClinGen gnomAD |
|
|
CA341554636 rs1245333162 |
65 | S>N | No |
ClinGen gnomAD |
|
|
rs1205219188 CA341554632 |
65 | S>R | No |
ClinGen gnomAD |
|
|
CA995701 rs746556085 |
67 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376497175 CA341554574 |
71 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995700 rs376497175 |
71 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341554548 rs1352751458 |
73 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341554542 rs1309978983 |
74 | D>H | No |
ClinGen gnomAD |
|
|
rs748073955 CA995698 |
75 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995697 rs778714173 |
76 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1316332895 CA341554490 |
79 | L>V | No |
ClinGen gnomAD |
|
|
COSM70639 CA995696 rs754703791 |
82 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 83 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA995695 rs754075620 |
84 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA341554416 rs1557999599 |
85 | K>* | No |
ClinGen Ensembl |
|
|
rs780315221 CA995694 |
85 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA28710476 rs781161635 |
86 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA995674 rs781161635 |
86 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA995673 rs757293027 |
87 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752124983 CA995672 |
88 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA341554333 rs1570699723 |
89 | D>A | No |
ClinGen Ensembl |
|
|
CA341554311 rs1570699710 |
91 | Y>S | No |
ClinGen Ensembl |
|
|
CA995670 rs138687644 |
92 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA995669 rs753148902 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA995671 rs138687644 |
92 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA995668 rs79394341 |
94 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1169326038 CA341554254 |
96 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1461903845 CA341554229 |
98 | A>V | No |
ClinGen gnomAD |
|
|
rs760279355 CA995666 |
99 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs202018423 CA995665 |
102 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA995664 rs766952298 COSM893586 |
102 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1175095956 CA341554171 |
104 | N>D | No |
ClinGen gnomAD |
|
|
CA341554165 rs1479210291 |
104 | N>K | No |
ClinGen gnomAD |
|
|
rs1570699494 CA341554168 |
104 | N>T | No |
ClinGen Ensembl |
|
|
CA341554161 rs1268811004 |
105 | T>A | No |
ClinGen gnomAD |
|
|
CA995661 rs140685730 |
106 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341554115 rs1570699430 |
109 | N>T | No |
ClinGen Ensembl |
|
|
rs1198153048 CA341554101 |
110 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1192726756 CA341554097 |
111 | I>V | No |
ClinGen TOPMed |
|
|
rs866195486 CA28710397 |
112 | L>Q | No |
ClinGen TOPMed |
|
|
rs141750157 CA995660 |
113 | S>Y | No |
ClinGen ESP ExAC |
|
|
rs146873673 CA341554052 |
116 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA995657 rs146873673 COSM3376641 |
116 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781416021 CA995656 |
118 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA995655 rs757406657 |
119 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1302037131 CA341554017 |
119 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300280156 CA341554004 |
120 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447897022 COSM4142115 CA341553984 |
123 | G>S | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1405806550 CA341553975 |
124 | T>P | No |
ClinGen gnomAD |
|
|
rs868789723 CA28710367 |
125 | S>I | No |
ClinGen Ensembl |
|
|
rs753202451 CA995651 |
126 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA28710364 rs959523991 |
128 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755315522 CA995649 |
132 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA341553882 rs1242280872 |
133 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754142069 CA995648 |
134 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA341553841 rs1570698308 |
136 | A>T | No |
ClinGen Ensembl |
|
|
CA341553828 rs1157241634 |
137 | E>Q | No |
ClinGen TOPMed |
|
|
CA995618 rs751174917 |
138 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142473909 CA995617 |
138 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA995615 rs752133796 |
140 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1570698186 CA341553784 |
141 | T>P | No |
ClinGen Ensembl |
|
|
rs994991166 CA341553720 |
145 | K>* | No |
ClinGen TOPMed |
|
|
CA28710132 rs994991166 |
145 | K>E | No |
ClinGen TOPMed |
|
|
CA341553702 rs1279556876 |
146 | A>G | No |
ClinGen gnomAD |
|
|
CA995613 rs183852988 |
146 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368382484 CA995610 |
148 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341553678 rs1388426382 |
149 | E>K | No |
ClinGen gnomAD |
|
|
CA995609 rs201335250 |
151 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341553544 rs1180281188 |
155 | P>L | No |
ClinGen gnomAD |
|
|
rs1223716451 CA341553542 |
156 | R>G | No |
ClinGen TOPMed |
|
|
CA341553539 rs766293316 |
156 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA995594 rs766293316 |
156 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1472167266 CA341553532 |
157 | L>P | No |
ClinGen gnomAD |
|
|
rs760609555 CA995593 |
160 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28709880 rs930153837 COSM116106 |
162 | P>R | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1460572238 CA341553489 |
162 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs6693815 VAR_026580 CA995592 |
163 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA341553476 rs1570696639 |
164 | Q>* | No |
ClinGen Ensembl |
|
|
rs1237840212 CA341553459 |
165 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs189948839 CA995590 |
165 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA995591 rs189948839 |
165 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378886349 CA341553458 |
166 | R>G | No |
ClinGen gnomAD |
|
|
CA341553443 rs1309661079 |
167 | W>* | No |
ClinGen gnomAD |
|
|
CA995589 rs774513266 |
167 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA341553446 rs1463266614 |
167 | W>R | No |
ClinGen Ensembl |
|
|
CA341553426 rs1357586301 |
168 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341553433 rs1557997623 |
168 | R>W | No |
ClinGen Ensembl |
|
|
CA341553418 rs1444955647 |
169 | G>A | No |
ClinGen TOPMed |
|
|
rs768579569 CA341553424 CA995588 |
169 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs749807649 CA995587 |
170 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157392588 CA341553410 |
170 | P>L | No |
ClinGen gnomAD |
|
|
CA995583 CA995584 rs200087276 |
174 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770269885 CA995585 |
174 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA995582 rs201848819 |
175 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1443633602 CA341553380 |
175 | P>S | No |
ClinGen gnomAD |
|
|
rs1442543354 CA341553375 |
176 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754376890 CA995579 |
176 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA995576 rs756093193 |
178 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA995577 rs766494188 |
178 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28709836 rs1054168501 |
179 | E>D | No |
ClinGen TOPMed |
|
|
rs750295366 CA995575 |
180 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341553342 rs1570696272 |
181 | A>G | No |
ClinGen Ensembl |
|
|
CA341553345 rs767372384 |
181 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA995574 rs767372384 |
181 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs202083454 CA995573 |
182 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs574079279 COSM893584 CA995572 |
182 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764246532 CA995571 |
183 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA995570 rs762999539 |
184 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs535127308 CA995569 |
185 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1205563 CA995567 rs373974273 |
186 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373974273 CA995568 |
186 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA995564 rs141320583 |
189 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555887557 CA995565 COSM1732836 |
189 | P>S | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs778491585 CA995563 |
190 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472898307 CA341553263 |
194 | H>Q | No |
ClinGen gnomAD |
|
|
rs79489706 CA28709812 |
197 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 198 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs983325632 CA28709811 |
199 | E>G | No |
ClinGen TOPMed |
|
|
CA995562 rs768352634 |
199 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341553237 rs768352634 |
199 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190590792 CA341553202 |
202 | L>F | No |
ClinGen gnomAD |
|
|
rs768246585 CA995545 |
203 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570695612 CA341553186 |
205 | S>P | No |
ClinGen Ensembl |
|
|
rs1570695593 CA341553175 |
207 | R>G | No |
ClinGen Ensembl |
|
|
CA341553168 rs1251428820 |
208 | P>T | No |
ClinGen TOPMed |
|
|
CA28709703 rs994586260 |
210 | P>L | No |
ClinGen Ensembl |
|
|
rs779743118 CA995543 |
211 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995542 rs143217199 |
211 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341553133 rs1282680264 |
213 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341553137 rs1282680264 |
213 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA28709698 rs745815725 |
214 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995541 rs745815725 |
214 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995540 rs138344133 |
215 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA995539 rs757213019 |
215 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341553108 rs1398540618 |
216 | R>G | No |
ClinGen gnomAD |
|
|
CA995538 rs141685896 |
216 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777601823 CA995537 |
217 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758638243 CA995536 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557996799 CA341553061 |
219 | S>R | No |
ClinGen Ensembl |
|
|
rs1284610768 CA341553066 |
219 | S>T | No |
ClinGen TOPMed |
|
|
CA995534 rs372641662 |
221 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1213503732 CA341553003 |
224 | P>L | No |
ClinGen TOPMed |
|
|
rs759551837 CA995533 |
226 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773474367 CA995529 |
228 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995530 rs773474367 |
228 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1205560 CA995531 rs751313141 |
228 | R>W | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767884279 CA995528 |
229 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA341552918 rs762698952 |
231 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762698952 CA995526 |
231 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 232 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150245280 CA995524 COSM3385011 |
233 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA341552902 rs150245280 |
233 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745436307 CA995522 |
235 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1223695430 CA341552851 |
237 | R>M | No |
ClinGen gnomAD |
|
|
CA341552840 rs1375198719 |
238 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 239 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA995520 rs766295460 |
239 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995501 rs372362835 |
240 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372362835 CA995502 |
240 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771980614 CA995500 |
241 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA341552713 rs1557996099 |
242 | L>P | No |
ClinGen Ensembl |
|
|
rs747980315 CA995499 |
244 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA995498 rs778658959 |
248 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA341552609 rs780003675 |
249 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749489904 CA995496 |
249 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352468249 CA341552573 |
252 | F>L | No |
ClinGen Ensembl |
|
|
rs750457883 CA341552566 |
253 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA913307124 rs1557995972 |
253 | M>P | No |
ClinGen Ensembl |
|
|
CA995493 rs750457883 |
253 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1356136537 CA341552568 |
253 | M>V | No |
ClinGen gnomAD |
|
|
CA28709395 rs777818613 |
254 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 257 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323085582 CA341552506 |
258 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341552337 rs1300014985 |
269 | F>L | No |
ClinGen gnomAD |
|
|
CA995490 rs768206990 |
269 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA341552324 rs1400502690 |
270 | G>A | No |
ClinGen gnomAD |
|
|
CA341552328 rs1400502690 |
270 | G>E | No |
ClinGen gnomAD |
|
|
COSM893582 CA995489 rs757805508 |
271 | K>E | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA341552291 rs1161194376 |
273 | N>S | No |
ClinGen gnomAD |
|
|
CA995486 rs764503602 |
275 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574668871 CA995487 |
275 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA995485 rs368910680 |
276 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341552242 rs1557995742 |
277 | G>R | No |
ClinGen Ensembl |
|
|
CA995467 rs376091285 |
278 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371411203 CA995483 |
278 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA28709294 rs932990551 |
279 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341552148 rs1197661767 |
282 | A>T | No |
ClinGen gnomAD |
|
|
rs766119502 CA995466 |
282 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341552117 rs1275615080 |
284 | Y>D | No |
ClinGen TOPMed |
|
|
CA995465 rs760225779 |
285 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 285 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341552089 rs760225779 |
285 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341552101 rs1483161788 |
285 | I>V | No |
ClinGen TOPMed |
|
|
CA995464 rs749961059 |
288 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1343674210 CA341552044 |
288 | F>V | No |
ClinGen gnomAD |
|
|
CA995463 rs766977517 |
290 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761747437 CA995462 |
290 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs774216761 CA995461 |
292 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA995459 VAR_026581 rs3818562 |
293 | H>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775118605 CA995458 |
296 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891787008 CA28709269 |
297 | L>I | No |
ClinGen Ensembl |
|
|
rs775375992 CA995440 |
299 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs139223358 CA995441 |
299 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341551725 rs1206389415 |
300 | R>K | No |
ClinGen TOPMed |
|
|
CA341551706 rs1381293960 |
301 | L>P | No |
ClinGen gnomAD |
|
|
rs1158814857 CA341551699 |
302 | A>T | No |
ClinGen gnomAD |
|
|
CA341551684 rs1472229946 |
302 | A>V | No |
ClinGen gnomAD |
|
|
rs1235255364 CA341551654 |
304 | W>* | No |
ClinGen gnomAD |
|
|
CA341551638 rs1188939786 |
306 | K>E | No |
ClinGen gnomAD |
|
|
rs764900367 CA995439 |
307 | E>* | No |
ClinGen ExAC |
|
| TCGA novel | 307 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28709138 rs144523624 |
309 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1485709544 CA341551589 |
310 | A>D | No |
ClinGen gnomAD |
|
|
CA341551575 rs1244794411 |
311 | P>L | No |
ClinGen TOPMed |
|
|
CA28709136 rs1025196293 |
312 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1284647760 CA341551562 |
313 | L>I | No |
ClinGen gnomAD |
|
|
rs372941357 CA995435 |
314 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199568274 CA995434 |
315 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1415547371 CA341551531 |
316 | I>N | No |
ClinGen gnomAD |
|
|
rs1161552354 CA341551533 |
316 | I>V | No |
ClinGen TOPMed |
|
|
CA995432 rs540511118 |
317 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA341551526 rs540511118 |
317 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341551512 rs1452615015 |
318 | F>L | No |
ClinGen TOPMed |
|
|
CA995431 rs748565720 |
318 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1346177257 CA341551489 |
320 | S>F | No |
ClinGen gnomAD |
|
|
CA995430 rs143763282 |
321 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1411263430 | 323 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341551417 rs147423638 |
325 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA995406 rs777341183 |
326 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA28708810 rs76477226 |
327 | R>T | No |
ClinGen Ensembl |
|
|
CA995402 rs754932330 |
330 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1299715965 CA341551376 |
331 | A>V | No |
ClinGen gnomAD |
|
|
rs1217944593 CA341551361 |
334 | A>E | No |
ClinGen gnomAD |
|
|
CA995401 rs148326934 |
334 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341551354 rs1322347160 |
335 | A>V | No |
ClinGen TOPMed |
|
|
rs62636566 CA28708791 |
338 | I>F | No |
ClinGen Ensembl |
|
|
rs760984560 CA341551334 |
338 | I>M | No |
ClinGen ExAC |
|
|
CA995398 rs138286578 |
339 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA995395 rs774462417 |
342 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1366555715 CA341551296 |
343 | T>I | No |
ClinGen gnomAD |
|
|
rs769204150 CA995394 |
346 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763403529 CA995393 |
347 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396672125 CA341551216 |
351 | Q>* | No |
ClinGen gnomAD |
|
|
rs1275250816 CA341551210 |
351 | Q>H | No |
ClinGen gnomAD |
|
|
CA341551212 rs1193952543 |
351 | Q>L | No |
ClinGen gnomAD |
|
|
CA995392 rs143990814 |
352 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs895905806 CA28708721 |
353 | C>R | No |
ClinGen Ensembl |
|
|
CA341551179 rs1179144839 |
355 | S>G | No |
ClinGen gnomAD |
|
|
CA995390 rs751665364 |
355 | S>L | No |
ClinGen ExAC |
|
|
CA341551172 rs1481022562 |
355 | S>R | No |
ClinGen gnomAD |
|
|
VAR_026582 CA995389 rs11102001 |
356 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs532171561 CA995385 |
358 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532171561 CA341551147 |
358 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA995386 rs747651626 |
358 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995384 rs373029120 |
359 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA995383 rs753763096 |
359 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs139767814 CA995382 |
360 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1570690142 CA341551113 |
360 | N>T | No |
ClinGen Ensembl |
|
|
rs756032557 CA341551099 |
361 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756032557 CA995381 |
361 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28708694 rs201521856 |
364 | G>A | No |
ClinGen 1000Genomes |
|
|
CA341551042 rs1301705227 |
366 | G>S | No |
ClinGen gnomAD |
|
|
rs1445733767 CA341551008 |
369 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748300383 CA995377 COSM1332513 |
373 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA995378 rs762076759 |
373 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418635060 CA341549439 |
375 | D>E | No |
ClinGen gnomAD |
|
|
CA995359 rs764169881 |
375 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA28705148 rs529514809 |
375 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA995360 rs529514809 |
375 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1045927307 CA28705141 |
377 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA995358 rs758528717 |
378 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA995355 rs757077141 |
379 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995356 rs757077141 |
379 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341549314 rs1398419239 |
380 | E>K | No |
ClinGen TOPMed |
|
|
rs1264536138 CA341549251 |
381 | P>L | No |
ClinGen gnomAD |
|
|
rs1336338347 CA341549202 |
383 | P>L | No |
ClinGen gnomAD |
|
|
rs920972791 CA28705072 COSM3385010 |
387 | T>I | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs761386703 CA341549058 |
388 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs761386703 CA995352 |
388 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs139620733 CA995351 |
389 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341549024 rs1382637173 |
389 | S>L | No |
ClinGen gnomAD |
|
|
rs139620733 CA28705065 |
389 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs921968780 CA28705049 |
390 | D>G | No |
ClinGen TOPMed |
|
|
CA995349 rs77987176 |
395 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28705039 rs77987176 |
395 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 396 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 397 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775122926 CA995348 |
397 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs995472923 CA28704765 |
402 | P>A | No |
ClinGen Ensembl |
|
|
CA341548577 rs1180162151 |
402 | P>L | No |
ClinGen gnomAD |
|
|
rs1177590896 CA341548534 |
404 | G>E | No |
ClinGen gnomAD |
|
|
rs912001414 CA28704759 |
406 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs912001414 CA341548488 |
406 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA28704739 rs374045120 |
407 | D>E | No |
ClinGen Ensembl |
|
|
CA341548419 rs1268771497 |
407 | D>H | No |
ClinGen TOPMed |
|
|
rs139021754 CA341548390 |
408 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139021754 CA341548387 |
408 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139021754 CA28704725 |
408 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341548371 rs1371327619 |
409 | V>A | No |
ClinGen TOPMed |
|
|
rs1196337626 CA341548377 |
409 | V>I | No |
ClinGen gnomAD |
|
|
CA341548367 rs1277937144 |
410 | S>P | No |
ClinGen gnomAD |
|
|
rs1236311138 CA341548359 |
410 | S>Y | No |
ClinGen gnomAD |
|
|
rs1348291339 CA341548349 |
411 | L>F | No |
ClinGen gnomAD |
|
|
CA341548336 rs765310409 |
412 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995338 rs755469602 |
412 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA995339 rs765310409 |
412 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA995323 rs372478726 |
413 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746842011 CA995324 |
413 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557988445 CA341547364 |
419 | G>W | No |
ClinGen Ensembl |
|
|
rs1450111936 CA341547276 |
423 | H>P | No |
ClinGen gnomAD |
|
|
rs746876288 CA28704371 |
423 | H>Q | No |
ClinGen Ensembl |
|
|
rs368734271 CA995320 |
423 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA28704356 rs945850863 |
425 | P>S | No |
ClinGen Ensembl |
|
|
CA995318 rs753860773 |
426 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341547111 rs1477118286 |
431 | N>I | No |
ClinGen TOPMed |
|
|
CA341547109 rs1448516555 |
431 | N>K | No |
ClinGen gnomAD |
|
|
rs1570677399 CA341547062 |
433 | D>A | No |
ClinGen Ensembl |
|
|
rs1209443136 CA341547015 |
435 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs892592370 CA28704347 |
435 | Q>R | No |
ClinGen Ensembl |
|
|
CA341546984 rs1332792009 |
436 | P>L | No |
ClinGen gnomAD |
|
|
CA28704346 rs1039297661 |
436 | P>S | No |
ClinGen TOPMed |
|
|
CA341546953 rs1570677343 |
438 | D>A | No |
ClinGen Ensembl |
|
|
rs1295158959 CA341546932 |
439 | P>S | No |
ClinGen gnomAD |
|
|
CA341546914 rs1009598752 |
440 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341546901 rs1268917509 |
440 | N>K | No |
ClinGen gnomAD |
|
|
CA28704344 rs1009598752 |
440 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1009598752 CA341546918 |
440 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341546871 rs1570677251 |
441 | S>F | No |
ClinGen Ensembl |
|
|
CA341546895 rs1570677268 |
441 | S>P | No |
ClinGen Ensembl |
|
|
rs1570677197 CA341546824 |
444 | S>P | No |
ClinGen Ensembl |
|
|
CA341546807 rs1168931262 |
445 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 446 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346139454 CA341546776 CA341546771 |
447 | K>N | No |
ClinGen gnomAD |
|
|
rs569044050 CA28704311 |
447 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA28704321 rs569044050 |
447 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341546760 rs1460558799 |
448 | P>L | No |
ClinGen gnomAD |
|
|
CA341546712 rs1324808346 |
451 | P>S | No |
ClinGen TOPMed |
|
|
CA995314 rs374700373 |
453 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370318041 CA341546586 |
458 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA995313 rs750844890 |
459 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs764781952 CA995309 |
460 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs752338902 CA995310 |
460 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA995311 rs762702784 |
460 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259701084 CA341546413 |
466 | P>S | No |
ClinGen TOPMed |
|
|
rs148823610 CA995307 |
467 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM527483 CA995308 rs759149795 |
467 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA995305 rs77184613 |
470 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341546338 rs1271570143 |
471 | V>M | No |
ClinGen gnomAD |
|
|
rs1363135015 CA341546238 |
475 | E>K | No |
ClinGen gnomAD |
|
|
rs771786172 CA995303 |
476 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA28704236 rs951499961 |
477 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs927152831 CA28704220 |
478 | E>D | No |
ClinGen TOPMed |
|
|
rs1185303130 CA341546170 |
478 | E>K | No |
ClinGen gnomAD |
|
|
rs1570675978 CA341546066 |
479 | V>G | No |
ClinGen Ensembl |
|
|
rs1312192257 CA341546081 |
479 | V>I | No |
ClinGen gnomAD |
|
|
CA341546051 rs1238122232 |
481 | D>H | No |
ClinGen TOPMed |
|
|
CA341546023 rs1174536497 |
482 | H>D | No |
ClinGen gnomAD |
|
|
rs145242219 CA995283 |
485 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773995331 CA28703939 |
485 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749435073 CA995282 |
486 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA341545848 rs1480999027 |
487 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341545872 rs1254439763 |
487 | W>R | No |
ClinGen TOPMed |
|
|
CA995281 rs775648040 |
489 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs745932350 CA995279 |
492 | E>D | No |
ClinGen ExAC |
|
|
CA995280 rs769939172 |
492 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs549152937 CA995278 |
493 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341545704 rs549152937 |
493 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995277 rs549152937 COSM1205562 |
493 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA995274 rs373046989 COSM893579 |
495 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA995275 rs75744349 |
495 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA995272 rs765884986 |
497 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755689401 CA995271 |
498 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28703865 rs949967630 |
499 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 501 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA995270 rs749905877 |
501 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA995269 rs548689027 |
503 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA995267 rs773079668 TCGA novel |
505 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs763733204 CA995266 |
506 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA341545520 rs1452775721 |
506 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775916506 CA995264 |
508 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775916506 CA341545512 |
508 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868605570 CA28703806 |
509 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868605570 CA341545501 |
509 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs868605570 CA341545502 |
509 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1347545792 CA341545464 |
511 | T>I | No |
ClinGen TOPMed |
|
|
CA28703793 rs983041666 |
513 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341545428 rs983041666 |
513 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370846877 CA995261 |
516 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28703777 rs187392246 |
516 | G>S | No |
ClinGen 1000Genomes |
|
|
rs1557987180 CA341545382 |
517 | Q>* | No |
ClinGen Ensembl |
|
|
CA995260 rs771583640 |
518 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 519 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4004675 CA995258 rs778204016 |
521 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs527350018 COSM1332508 CA995259 |
521 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs748562964 CA995237 |
522 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA341545218 rs1267390400 |
523 | P>S | No |
ClinGen gnomAD |
|
|
rs779199161 CA995236 |
524 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995235 rs199519085 |
526 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA995234 rs775495257 |
526 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341545153 rs1228955090 |
527 | L>F | No |
ClinGen gnomAD |
|
|
CA28703528 rs969457855 |
528 | S>R | No |
ClinGen TOPMed |
|
|
CA341545115 rs780697777 |
529 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs780697777 CA995233 |
529 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA28703514 rs866379026 |
530 | R>K | No |
ClinGen Ensembl |
|
|
rs751079512 CA995231 |
530 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA341545096 rs1328202674 |
531 | P>T | No |
ClinGen gnomAD |
|
|
rs76425431 CA995230 |
532 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341545054 rs1299217271 |
533 | E>D | No |
ClinGen gnomAD |
|
|
CA341545056 rs1399347131 |
533 | E>G | No |
ClinGen gnomAD |
|
|
rs1434541678 CA341545051 |
534 | V>I | No |
ClinGen gnomAD |
|
|
rs546214042 CA341545028 |
535 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs546214042 CA995229 |
535 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 536 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341545013 rs1570674081 |
537 | W>R | No |
ClinGen Ensembl |
|
|
CA341544998 rs1455253575 |
538 | L>M | No |
ClinGen gnomAD |
|
|
CA995226 rs759841326 |
539 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1435565218 CA341544951 |
540 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs373256152 CA995225 |
542 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1047579624 CA28703464 |
543 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 543 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA995223 rs760731881 |
545 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341544808 rs760731881 |
545 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341544790 rs369110301 |
546 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369110301 CA995221 COSM1205561 |
546 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA341544597 rs1570672787 |
547 | T>M | No |
ClinGen Ensembl |
|
| TCGA novel | 548 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA995204 rs750500087 COSM1667790 |
548 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA341544538 rs1570672731 |
549 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 550 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28703094 rs1053382995 |
550 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341544503 rs1053382995 |
550 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1053382995 CA341544502 |
550 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs146350732 CA995203 |
551 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935904237 CA341544475 |
551 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs935904237 CA28703091 |
551 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762324303 CA995202 |
553 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA341544449 rs1375668255 |
553 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs145677992 CA341544407 |
555 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145677992 CA995201 |
555 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148185176 RCV000885853 CA995198 |
556 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA995197 rs372417603 |
557 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA995196 rs746630715 CA341544316 |
558 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341544327 rs1460465756 |
558 | Q>L | No |
ClinGen gnomAD |
|
|
rs1189960720 CA341544303 |
559 | L>P | No |
ClinGen gnomAD |
|
|
rs772599226 COSM280840 CA995195 |
561 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1497826 rs765071196 CA995194 |
561 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA995193 rs747646220 |
562 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78041550 CA28703062 |
564 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1338875385 CA341544161 |
565 | G>R | No |
ClinGen TOPMed |
|
|
rs754934510 CA995190 |
568 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341544069 rs1315738876 |
569 | M>I | No |
ClinGen TOPMed |
|
|
rs1275653643 CA341544038 |
571 | C>G | No |
ClinGen gnomAD |
|
|
CA995189 rs749060245 |
571 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749060245 CA341544036 |
571 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28703056 rs368865337 |
572 | P>L | No |
ClinGen ESP |
|
|
CA995188 rs539746728 |
573 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573771578 CA28703055 |
574 | E>D | No |
ClinGen Ensembl |
|
|
rs1428228633 CA341543987 |
574 | E>K | No |
ClinGen gnomAD |
|
|
rs562008534 CA28703051 |
575 | A>D | No |
ClinGen Ensembl |
|
|
CA995186 rs147585592 |
577 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341543942 rs577159080 |
577 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577159080 CA995185 |
577 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA341543916 rs1557985487 |
579 | L>Q | No |
ClinGen Ensembl |
|
|
rs35072794 COSM4142112 CA995182 VAR_050977 |
581 | R>Q | thyroid [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs554030593 CA995183 COSM527485 |
581 | R>W | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs763397940 CA995181 |
582 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs568612872 CA341543849 |
583 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554385715 CA995179 |
584 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554385715 CA341543847 |
584 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 584 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248922254 CA341543825 |
585 | V>I | No |
ClinGen gnomAD |
|
|
rs760254794 CA995178 |
589 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs772973555 CA995177 |
590 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418604250 CA341543521 |
591 | I>T | No |
ClinGen gnomAD |
|
|
rs771170860 CA995148 |
592 | S>R | No |
ClinGen ExAC |
|
|
rs1405839752 CA341543498 |
592 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341543488 rs1184982864 |
593 | P>L | No |
ClinGen gnomAD |
|
|
CA28702506 rs77091584 |
593 | P>S | No |
ClinGen Ensembl |
|
|
rs1473172026 CA341543486 |
594 | P>Q | No |
ClinGen gnomAD |
1 associated diseases with Q8TE67
[MIM: 612841]: Hypotrichosis 5 (HYPT5)
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. {ECO:0000269|PubMed:23099647}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. {ECO:0000269|PubMed:23099647}. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 regional properties for Q8TE67
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 450 - 509 | IPR001452 |
| domain | Tensin/EPS8 phosphotyrosine-binding domain | 28 - 155 | IPR013625 |
| domain | Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain | 25 - 154 | IPR033928 |
| domain | Eps8, SH3 domain | 455 - 507 | IPR035462 |
| domain | SAM domain | 524 - 583 | IPR041418 |
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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of ruffle assembly | Any process that activates or increases the frequency, rate or extent of ruffle assembly. |
| regulation of hair cycle | Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. |
| regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
| Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8TE68 | EPS8L1 | Epidermal growth factor receptor kinase substrate 8-like protein 1 | Homo sapiens (Human) | PR |
| Q9H6S3 | EPS8L2 | Epidermal growth factor receptor kinase substrate 8-like protein 2 | Homo sapiens (Human) | PR |
| Q08509 | Eps8 | Epidermal growth factor receptor kinase substrate 8 | Mus musculus (Mouse) | PR |
| Q8R5F8 | Eps8l1 | Epidermal growth factor receptor kinase substrate 8-like protein 1 | Mus musculus (Mouse) | PR |
| Q99K30 | Eps8l2 | Epidermal growth factor receptor kinase substrate 8-like protein 2 | Mus musculus (Mouse) | PR |
| Q91WL0 | Eps8l3 | Epidermal growth factor receptor kinase substrate 8-like protein 3 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRPSSRAIY | LHRKEYSQNL | TSEPTLLQHR | VEHLMTCKQG | SQRVQGPEDA | LQKLFEMDAQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRVWSQDLIL | QVRDGWLQLL | DIETKEELDS | YRLDSIQAMN | VALNTCSYNS | ILSITVQEPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPGTSTLLFQ | CQEVGAERLK | TSLQKALEEE | LEQRPRLGGL | QPGQDRWRGP | AMERPLPMEQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARYLEPGIPP | EQPHQRTLEH | SLPPSPRPLP | RHTSAREPSA | FTLPPPRRSS | SPEDPERDEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLNHVLRDIE | LFMGKLEKAQ | AKTSRKKKFG | KKNKDQGGLT | QAQYIDCFQK | IKHSFNLLGR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LATWLKETSA | PELVHILFKS | LNFILARCPE | AGLAAQVISP | LLTPKAINLL | QSCLSPPESN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LWMGLGPAWT | TSRADWTGDE | PLPYQPTFSD | DWQLPEPSSQ | APLGYQDPVS | LRRGSHRLGS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TSHFPQEKTH | NHDPQPGDPN | SRPSSPKPAQ | PALKMQVLYE | FEARNPRELT | VVQGEKLEVL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DHSKRWWLVK | NEAGRSGYIP | SNILEPLQPG | TPGTQGQSPS | RVPMLRLSSR | PEEVTDWLQA |
| 550 | 560 | 570 | 580 | 590 | |
| ENFSTATVRT | LGSLTGSQLL | RIRPGELQML | CPQEAPRILS | RLEAVRRMLG | ISP |