Q8N4U5
PR
Gene name |
TCP11L2 |
Protein name |
T-complex protein 11-like protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:255394 |
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
1 structures for Q8N4U5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N4U5-F1 | Predicted | AlphaFoldDB |
470 variants for Q8N4U5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6761043 rs781611488 |
3 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1285244280 CA386382746 |
3 | F>L | No |
ClinGen gnomAD |
|
|
rs1592930820 CA386382789 |
5 | G>D | No |
ClinGen Ensembl |
|
|
CA386382781 rs1392787146 |
5 | G>S | No |
ClinGen TOPMed |
|
|
CA6761046 rs375993205 |
6 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6761047 rs571806633 |
8 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6761048 rs770540100 |
9 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA386382897 rs778598378 |
9 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6761049 rs778598378 |
9 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6761050 rs368565585 |
10 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386382977 rs1372603411 |
12 | E>G | No |
ClinGen gnomAD |
|
|
CA6761051 rs369272301 |
17 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386383155 rs1233486519 |
18 | S>T | No |
ClinGen TOPMed |
|
|
rs1183956199 CA386383166 |
18 | S>Y | No |
ClinGen TOPMed |
|
|
CA386383178 rs1449774310 |
19 | D>N | No |
ClinGen TOPMed |
|
|
CA386383192 rs1252210046 |
19 | D>V | No |
ClinGen TOPMed |
|
|
CA243202001 rs35252097 |
21 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA243202015 COSM1706202 rs35252097 |
21 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6761053 rs760610527 |
22 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6761052 rs201090712 |
22 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243202023 rs922868674 |
23 | F>C | No |
ClinGen TOPMed |
|
|
CA6761054 rs768539805 |
24 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6761055 rs773300804 |
25 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386383420 rs1340553446 |
27 | M>I | No |
ClinGen gnomAD |
|
|
CA386383399 rs1369409235 |
27 | M>V | No |
ClinGen TOPMed |
|
|
CA6761056 rs375276250 |
29 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386383486 rs759623187 |
30 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761059 rs759623187 |
30 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243202052 rs1053526364 |
31 | S>G | No |
ClinGen TOPMed |
|
|
rs768002351 CA6761060 |
31 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761061 rs200135427 |
32 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243202062 rs974304593 |
33 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146114134 CA243202065 |
36 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1394411682 CA386383675 |
37 | R>K | No |
ClinGen TOPMed |
|
|
CA386383720 rs1194125170 |
39 | S>R | No |
ClinGen TOPMed |
|
|
CA386383782 rs1592931192 |
40 | F>L | No |
ClinGen Ensembl |
|
|
CA6761062 rs4964460 VAR_037728 |
41 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6761063 rs778404741 |
42 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243202092 rs1009383525 |
45 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6761098 rs201726760 |
53 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6761099 rs377402090 |
54 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA243203594 rs1055745080 |
55 | S>I | No |
ClinGen TOPMed |
|
|
CA386384173 rs1258957862 |
56 | P>A | No |
ClinGen gnomAD |
|
|
CA6761100 rs781160782 |
57 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6761101 rs748125058 |
58 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243203605 rs1042915160 |
58 | R>S | No |
ClinGen TOPMed |
|
|
CA243203609 rs893047255 |
59 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA386384224 rs1191820180 |
60 | V>A | No |
ClinGen gnomAD |
|
|
rs1370791949 CA386384232 |
61 | T>A | No |
ClinGen gnomAD |
|
|
rs1173228713 CA386384242 |
62 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 63 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386384264 rs1404089341 |
64 | E>K | No |
ClinGen TOPMed |
|
|
rs1385081484 CA386384275 |
65 | V>G | No |
ClinGen TOPMed |
|
|
CA386384272 rs1170863470 |
65 | V>M | No |
ClinGen gnomAD |
|
|
rs1164619795 CA386384287 |
67 | A>T | No |
ClinGen TOPMed |
|
|
CA386384297 rs554702005 |
68 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554702005 CA6761104 |
68 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243203621 rs998814617 |
70 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 70 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381626101 CA386384311 |
71 | N>D | No |
ClinGen gnomAD |
|
|
CA386384316 rs1396653282 |
71 | N>K | No |
ClinGen gnomAD |
|
|
rs540372777 CA6761107 |
72 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1176801036 CA386384319 |
72 | L>V | No |
ClinGen TOPMed |
|
|
rs1401939869 CA386384327 |
73 | S>* | No |
ClinGen gnomAD |
|
|
CA243203628 rs200514410 |
73 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6761108 rs560172594 |
74 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1036013213 CA386384337 |
75 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1592937180 CA386384347 |
76 | T>I | No |
ClinGen Ensembl |
|
|
rs1450968016 CA386384349 |
77 | L>I | No |
ClinGen TOPMed |
|
|
rs764566937 CA6761110 |
78 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386384360 rs1346180072 |
79 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11837375 VAR_037729 CA6761112 |
82 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6761113 rs762413418 |
83 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001810631 CA6761114 rs765611865 |
85 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA386384440 rs1479273361 |
90 | K>Q | No |
ClinGen gnomAD |
|
|
CA243203645 rs867693572 |
91 | Q>E | No |
ClinGen TOPMed |
|
|
rs867693572 CA243203644 |
91 | Q>K | No |
ClinGen TOPMed |
|
|
rs1377935306 CA386384462 |
93 | A>T | No |
ClinGen gnomAD |
|
|
CA6761119 rs766083284 |
93 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231710561 CA386384467 |
94 | L>V | No |
ClinGen gnomAD |
|
|
rs1365529461 CA386384478 |
95 | P>L | No |
ClinGen TOPMed |
|
|
rs1298925072 CA386384496 |
98 | S>G | No |
ClinGen gnomAD |
|
|
rs142076632 CA6761160 |
101 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386384687 COSM3935713 rs1223207122 |
102 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs757196033 CA6761162 |
102 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761164 rs114291268 |
106 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114291268 CA6761165 |
106 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6761166 rs781238856 |
108 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA243205221 rs909812620 |
109 | Q>H | No |
ClinGen TOPMed |
|
|
rs1440118202 CA386384737 |
110 | A>T | No |
ClinGen gnomAD |
|
|
CA386384762 rs1244600140 |
113 | D>A | No |
ClinGen TOPMed |
|
|
rs773564450 CA386384765 |
113 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244600140 CA386384764 |
113 | D>V | No |
ClinGen TOPMed |
|
|
CA6761168 rs200134102 |
113 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148807946 CA6761170 |
114 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386384791 rs1349974448 |
117 | S>L | No |
ClinGen TOPMed |
|
|
rs1218703067 CA386384806 |
120 | N>H | No |
ClinGen TOPMed |
|
|
rs771381808 CA243205235 |
121 | A>D | No |
ClinGen ExAC TOPMed |
|
|
CA243205231 rs987755929 |
121 | A>T | No |
ClinGen TOPMed |
|
|
rs771381808 CA6761171 |
121 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA386384830 rs1410698534 |
123 | P>R | No |
ClinGen TOPMed |
|
|
CA386384833 rs1312366000 |
124 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6761173 rs759018413 |
126 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752279158 CA6761175 |
126 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs759018413 CA6761174 |
126 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243205255 rs781656090 |
127 | E>G | No |
ClinGen Ensembl |
|
|
rs1448003457 CA386384859 |
128 | H>Y | No |
ClinGen gnomAD |
|
|
rs763800671 CA6761177 |
129 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6761179 rs757282015 |
130 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6761178 rs753646435 |
130 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555202299 CA386384878 |
131 | K>R | No |
ClinGen Ensembl |
|
|
CA6761180 rs778971196 |
132 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6761181 rs751727103 |
133 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1378714556 CA386384891 |
133 | F>Y | No |
ClinGen TOPMed |
|
|
CA386384894 rs1176038612 |
134 | E>K | No |
ClinGen TOPMed |
|
|
CA386384916 rs141194065 |
136 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386374781 rs1415351607 |
140 | L>V | No |
ClinGen TOPMed |
|
|
CA386374818 rs1171271243 |
146 | P>S | No |
ClinGen TOPMed |
|
|
rs1171271243 CA386374819 |
146 | P>T | No |
ClinGen TOPMed |
|
|
CA243148078 rs922087384 |
147 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs79646734 CA6761206 |
147 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6761208 rs757608534 |
148 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749722416 CA6761207 |
148 | G>R | No |
ClinGen ExAC |
|
|
CA386374831 rs757608534 |
148 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442716305 CA386374833 |
149 | N>D | No |
ClinGen TOPMed |
|
|
rs533971528 CA386374835 |
149 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243148102 rs919210927 |
149 | N>K | No |
ClinGen TOPMed |
|
|
rs533971528 CA6761209 |
149 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533971528 CA6761210 |
149 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386374837 rs772592153 |
150 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386374839 rs138066544 |
150 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6761212 rs138066544 |
150 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6761211 rs772592153 |
150 | R>W | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1190528772 CA386374844 |
151 | L>P | No |
ClinGen gnomAD |
|
|
CA6761214 rs768464120 |
152 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM934386 CA6761215 rs138884019 |
152 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761756927 CA6761216 |
153 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386374871 rs1391555151 |
155 | I>M | No |
ClinGen Ensembl |
|
|
rs1351473048 CA386374877 |
156 | C>* | No |
ClinGen gnomAD |
|
|
CA6761217 rs779166835 |
156 | C>* | No |
ClinGen ExAC |
|
|
rs765135038 CA6761218 |
156 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1592950577 CA386374885 |
157 | E>D | No |
ClinGen Ensembl |
|
|
CA6761219 rs772989988 |
158 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs891553515 CA243148141 |
159 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1361701780 CA386374904 |
160 | D>E | No |
ClinGen TOPMed |
|
|
rs766287437 CA6761221 |
162 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565847966 CA386374925 |
164 | I>L | No |
ClinGen Ensembl |
|
|
rs1377966511 CA386374929 |
164 | I>S | No |
ClinGen TOPMed |
|
|
CA6761224 rs764360195 |
167 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs760808655 CA6761223 |
167 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs904276062 CA243148163 |
169 | E>G | No |
ClinGen Ensembl |
|
|
rs754073751 CA6761225 |
170 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1289246509 CA386374974 |
171 | S>G | No |
ClinGen gnomAD |
|
|
rs1423455980 CA386374985 |
172 | A>D | No |
ClinGen gnomAD |
|
|
CA6761226 rs763394230 |
173 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243148167 rs552042741 |
173 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 173 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351328827 CA386374992 |
174 | D>Y | No |
ClinGen gnomAD |
|
|
rs1592950741 CA386375002 |
175 | I>T | No |
ClinGen Ensembl |
|
|
rs201595663 CA6761227 |
175 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750751883 CA6761228 |
176 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386375006 rs750751883 |
176 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs867950257 CA243148175 |
176 | Q>R | No |
ClinGen Ensembl |
|
|
rs900802762 CA243148181 |
178 | L>Q | No |
ClinGen Ensembl |
|
|
rs374633600 CA243148185 |
179 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1384155607 CA386375022 |
179 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6761230 rs780578715 |
180 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA243148190 rs1024181670 |
181 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768266247 CA6761232 |
183 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386375056 rs1287984443 |
184 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780788108 CA6761233 |
185 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1001486661 CA386375088 |
189 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6761234 rs747804995 |
189 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761236 rs772901806 |
190 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA386375095 rs772901806 |
190 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs529050823 CA243148228 |
191 | A>G | No |
ClinGen Ensembl |
|
|
rs763998268 CA243148229 COSM1746706 |
192 | P>A | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs770844609 CA386375109 |
193 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761238 COSM1288399 rs770844609 |
193 | V>M | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386375115 rs1472169592 COSM200382 |
194 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs774335516 COSM88687 CA6761239 |
194 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759414837 CA6761240 |
195 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs764165615 CA6761241 |
196 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1233076201 CA386375138 |
197 | D>E | No |
ClinGen gnomAD |
|
|
CA243148253 rs1027995493 |
197 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 197 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6761242 rs150164085 |
198 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386375148 rs1592951006 |
199 | R>I | No |
ClinGen Ensembl |
|
|
CA386375152 rs762045600 |
200 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6761243 rs762045600 |
200 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6761246 rs758784304 |
202 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA243148294 rs951917388 |
203 | A>T | No |
ClinGen TOPMed |
|
|
rs138672494 CA6761247 |
207 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752119908 CA6761248 |
207 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386375199 rs138672494 |
207 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6761251 rs77806322 |
208 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6761250 rs77806322 |
208 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456674720 CA386375211 |
209 | E>V | No |
ClinGen gnomAD |
|
|
CA386375219 rs1592951191 |
210 | V>G | No |
ClinGen Ensembl |
|
|
rs1192756688 CA386375215 |
210 | V>M | No |
ClinGen TOPMed |
|
| rs777479623 | 211 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239290715 CA386375222 |
211 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6761275 rs778790808 |
215 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386375848 rs1196199002 |
215 | F>L | No |
ClinGen TOPMed |
|
|
CA386375864 rs1464360109 |
216 | H>Y | No |
ClinGen gnomAD |
|
|
CA6761276 rs745642540 |
217 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6761278 rs753864504 |
220 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386375929 rs1297713925 |
220 | L>P | No |
ClinGen gnomAD |
|
|
rs1279084785 CA386375952 |
221 | M>I | No |
ClinGen gnomAD |
|
|
rs1402035669 CA386375947 |
221 | M>T | No |
ClinGen gnomAD |
|
|
CA386375939 rs1338551380 |
221 | M>V | No |
ClinGen gnomAD |
|
|
rs149344079 CA6761279 |
222 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936556689 CA243149073 |
223 | M>I | No |
ClinGen TOPMed |
|
|
CA386376019 rs1231610763 |
224 | D>G | No |
ClinGen gnomAD |
|
|
rs769929582 CA6761280 |
226 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769929582 CA243149077 |
226 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369338544 CA6761281 |
227 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200709273 CA243149106 |
230 | I>M | No |
ClinGen 1000Genomes |
|
|
CA386376122 rs1346378368 |
230 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1232346894 CA386376132 |
231 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6761284 rs763264237 |
234 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6761285 rs766458271 |
234 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6761286 rs144695471 |
235 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs980572423 CA243149123 |
237 | L>F | No |
ClinGen Ensembl |
|
|
CA6761289 rs753271990 COSM1228793 |
239 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM934390 CA6761290 rs756515281 |
239 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs374835882 CA6761291 |
240 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753239372 CA6761292 |
242 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6761294 rs778507581 |
243 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6761293 rs142823625 |
243 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs906583500 CA243149145 |
244 | Y>C | No |
ClinGen TOPMed |
|
|
CA6761295 rs745728340 |
247 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1385427066 CA386376480 |
250 | Q>* | No |
ClinGen gnomAD |
|
|
rs1054521807 CA243149150 |
250 | Q>R | No |
ClinGen gnomAD |
|
|
rs1395147737 CA386376504 |
251 | E>G | No |
ClinGen TOPMed |
|
|
CA386376529 rs1240004494 |
252 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6761299 rs768434623 |
255 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773360079 CA6761300 |
256 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386376603 rs1226942758 |
257 | P>L | No |
ClinGen gnomAD |
|
|
rs1319147461 CA386376601 |
257 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6761301 rs749303317 |
258 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs146095056 CA6761339 |
258 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6761340 rs765989131 |
259 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs751408591 CA6761341 |
259 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386379450 rs1592973108 |
261 | D>G | No |
ClinGen Ensembl |
|
|
rs17218950 CA6761343 VAR_037730 |
261 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6761344 rs185429315 |
263 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386379515 rs1265691742 |
264 | T>A | No |
ClinGen gnomAD |
|
|
CA386379523 rs1475944471 |
264 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386379528 rs1423660461 |
265 | E>K | No |
ClinGen gnomAD |
|
|
CA243155304 rs1000105350 |
266 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142195519 CA6761346 |
267 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150899007 COSM934392 CA6761348 |
269 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6761347 rs150899007 |
269 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs955710745 CA243155329 |
270 | S>F | No |
ClinGen Ensembl |
|
|
CA6761349 rs780137508 |
272 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1299634585 CA386379662 |
273 | E>* | No |
ClinGen gnomAD |
|
|
rs747466761 CA6761350 |
278 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1291831428 CA386379745 |
279 | S>Y | No |
ClinGen TOPMed |
|
|
rs1244694446 CA386379778 |
281 | S>G | No |
ClinGen TOPMed |
|
|
rs1380110984 CA386379785 |
281 | S>T | No |
ClinGen TOPMed |
|
|
CA386379843 rs1369491801 |
284 | T>N | No |
ClinGen gnomAD |
|
|
CA6761353 rs569049312 |
288 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 289 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386379963 rs1353061233 |
290 | T>I | No |
ClinGen gnomAD |
|
|
CA386379944 rs1592973295 |
290 | T>P | No |
ClinGen Ensembl |
|
|
CA386379970 rs1238150458 |
291 | S>F | No |
ClinGen gnomAD |
|
|
rs770236948 CA6761355 |
293 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770236948 CA6761356 |
293 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA386380016 rs762414333 |
294 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762414333 CA6761357 |
294 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139428803 CA6761358 |
295 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6761359 rs773858612 |
299 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA386380115 COSM1746707 rs1476053567 |
299 | L>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6761360 rs759164072 |
300 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA386380164 rs1437269010 |
301 | L>V | No |
ClinGen gnomAD |
|
|
rs767250556 CA386380222 |
303 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767250556 CA6761361 |
303 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163005456 CA386380236 |
304 | S>G | No |
ClinGen TOPMed |
|
|
rs1183858886 CA386380255 |
305 | Y>H | No |
ClinGen gnomAD |
|
|
rs150065713 CA6761362 |
306 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243155358 rs910715415 |
309 | L>S | No |
ClinGen gnomAD |
|
|
CA243155367 rs988683664 |
310 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs764092592 CA6761364 |
312 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA243155375 rs764092592 |
312 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6761365 rs750597940 |
314 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171244714 CA386380470 |
314 | Q>R | No |
ClinGen gnomAD |
|
|
CA386380484 rs1428238661 |
315 | K>Q | No |
ClinGen TOPMed |
|
|
rs1352300947 CA386380679 |
321 | T>R | No |
ClinGen TOPMed |
|
|
CA6761385 rs757192185 |
322 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386380702 rs1394525745 |
323 | M>I | No |
ClinGen TOPMed |
|
|
CA6761387 rs751607534 |
323 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751607534 CA243155664 |
323 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145445522 CA243155674 |
325 | D>V | No |
ClinGen ESP |
|
|
CA386380745 rs1304809846 |
326 | G>E | No |
ClinGen TOPMed |
|
|
CA243155705 rs139456300 |
327 | A>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386380756 rs139456300 |
327 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs891715785 CA243155696 |
327 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781440658 CA6761389 |
328 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257767813 CA386380769 |
328 | R>H | Variant assessed as Somatic; 9.256e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386380765 rs1257767813 |
328 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1316477688 CA386380785 |
330 | Q>* | No |
ClinGen gnomAD |
|
|
rs1198004903 CA386380789 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
CA386380798 rs1274338497 |
331 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145086993 CA6761391 |
338 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262244244 CA386380964 |
342 | I>V | No |
ClinGen TOPMed |
|
|
CA386380985 rs1201606973 |
343 | A>V | No |
ClinGen TOPMed |
|
|
rs778051668 CA6761392 |
348 | I>V | No |
ClinGen ExAC |
|
|
rs749827845 CA6761393 |
349 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1297137490 CA386381052 |
349 | T>S | No |
ClinGen gnomAD |
|
|
CA386381072 rs1475304177 |
350 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 351 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386381105 rs1339381753 |
352 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386381138 rs1334087411 |
357 | T>A | No |
ClinGen TOPMed |
|
|
CA386381144 rs1315043750 |
358 | G>R | No |
ClinGen TOPMed |
|
|
CA386381166 rs1192528645 |
361 | P>L | No |
ClinGen gnomAD |
|
|
CA386381163 rs1405685241 |
361 | P>S | No |
ClinGen TOPMed |
|
|
rs181821704 CA6761394 |
362 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6761395 rs147598851 |
364 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200060403 CA6761396 |
365 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 366 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6761397 rs771688812 |
366 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775268931 CA6761398 |
368 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6761399 rs760348013 |
368 | T>R | No |
ClinGen ExAC |
|
|
CA243155809 rs112348417 |
373 | V>A | No |
ClinGen Ensembl |
|
|
CA6761400 rs545856504 |
373 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386381248 rs1415580916 |
375 | L>P | No |
ClinGen gnomAD |
|
|
rs142164092 CA6761403 |
377 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6761402 rs142164092 |
377 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243155856 rs981269990 |
378 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751626464 CA6761404 |
378 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761405 rs759653223 |
379 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA386381272 rs1181459300 |
379 | N>S | No |
ClinGen TOPMed |
|
|
CA386381277 rs1344985847 |
380 | K>Q | No |
ClinGen gnomAD |
|
|
CA6761406 rs373176252 |
381 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750946220 CA6761431 |
384 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1592981092 CA386381783 |
385 | L>W | No |
ClinGen Ensembl |
|
|
rs746213082 CA243159522 |
386 | K>E | No |
ClinGen Ensembl |
|
|
CA6761432 rs529713960 |
386 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243159546 COSM934396 rs200909665 |
387 | E>G | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA386381792 rs1445369230 |
387 | E>K | No |
ClinGen gnomAD |
|
|
CA6761434 rs746495238 |
392 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386381827 rs1397352583 |
392 | I>T | No |
ClinGen TOPMed |
|
|
CA6761433 rs144573610 |
392 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6761435 rs754717049 |
393 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs780982533 CA6761436 |
393 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs368718336 CA243159563 |
397 | C>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386381860 rs1215405820 |
397 | C>W | No |
ClinGen gnomAD |
|
|
CA6761437 rs747948009 |
398 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386381911 rs1565861930 |
405 | M>T | No |
ClinGen Ensembl |
|
|
CA6761438 rs769642002 |
406 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176733437 CA386381923 |
407 | R>G | No |
ClinGen gnomAD |
|
|
CA6761439 rs371121161 |
407 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA243159572 rs1012485350 |
409 | L>S | No |
ClinGen TOPMed |
|
|
CA6761440 rs749272309 |
409 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386381947 rs1182779237 |
411 | T>A | No |
ClinGen gnomAD |
|
|
CA386381949 rs770835972 |
411 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761441 rs770835972 |
411 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460177776 CA386381955 |
412 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs202158755 CA6761443 |
414 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6761442 rs202158755 |
414 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386381971 rs200632958 |
415 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243159591 rs1001289380 |
415 | E>G | No |
ClinGen TOPMed |
|
|
CA6761444 rs200632958 |
415 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6761445 rs371746909 |
416 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA607599648 rs1374806152 |
417 | Q>H | No |
ClinGen gnomAD |
|
|
CA243159610 COSM1228794 rs1031052800 |
418 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs761877135 CA6761446 |
419 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1317072363 CA386382012 |
421 | I>T | No |
ClinGen gnomAD |
|
|
rs1273536475 CA386382009 |
421 | I>V | No |
ClinGen gnomAD |
|
|
CA6761448 rs765668459 |
422 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6761447 rs765668459 |
422 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs758990315 CA6761449 |
423 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs766957572 CA6761450 |
426 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA243159644 rs956792902 |
428 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6761451 rs751176919 |
429 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386382073 rs1190372807 |
430 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs374967776 CA6761452 |
430 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386382075 rs1418947006 |
431 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386382096 rs1477708063 |
433 | P>L | No |
ClinGen gnomAD |
|
|
CA386382111 rs1356860056 |
435 | W>C | No |
ClinGen gnomAD |
|
|
CA6761453 rs780790192 |
435 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386382105 rs780790192 |
435 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243159690 COSM1706203 rs952562610 |
436 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1462023722 CA386382131 |
439 | D>H | No |
ClinGen gnomAD |
|
|
rs1436103248 CA386382826 |
440 | K>* | No |
ClinGen gnomAD |
|
|
CA6761466 rs140375899 |
441 | R>* | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA386382852 rs763401853 |
441 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM934398 rs763401853 CA6761467 |
441 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 442 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550082613 CA6761468 |
444 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 444 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6761470 rs376640583 |
446 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6761469 rs752125101 |
446 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386382929 rs752125101 |
446 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767084431 CA6761472 |
447 | R>K | No |
ClinGen ExAC |
|
|
CA386382972 rs1218510555 |
448 | R>G | No |
ClinGen gnomAD |
|
|
rs752127793 CA6761473 |
448 | R>S | No |
ClinGen ExAC TOPMed |
|
|
rs755832784 CA6761474 |
449 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs939306247 CA243163697 |
450 | L>P | No |
ClinGen Ensembl |
|
|
rs1481621820 CA386383018 |
451 | C>R | No |
ClinGen TOPMed |
|
|
CA6761475 rs777287340 |
451 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386383040 rs1565865062 |
452 | L>F | No |
ClinGen Ensembl |
|
|
rs1372492775 CA386383048 |
452 | L>P | No |
ClinGen gnomAD |
|
|
CA386383073 rs1236679338 |
454 | S>I | No |
ClinGen gnomAD |
|
|
rs150377812 CA243163700 |
455 | P>S | No |
ClinGen ESP |
|
|
rs1316604742 CA386383093 |
456 | Q>R | No |
ClinGen gnomAD |
|
|
rs894833371 CA243163701 |
458 | C>Y | No |
ClinGen gnomAD |
|
|
CA386383131 CA6761477 rs757062673 |
459 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386383145 rs1235140957 |
459 | M>R | No |
ClinGen TOPMed |
|
|
CA6761478 rs757062673 |
459 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 460 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386383163 rs1486404758 |
460 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs138179809 CA6761479 |
460 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386383182 rs1191108437 |
461 | P>R | No |
ClinGen gnomAD |
|
|
CA386383171 rs1592988365 |
461 | P>T | No |
ClinGen Ensembl |
|
|
CA6761481 rs771951691 CA6761480 |
462 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761482 rs142808315 |
462 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771951691 CA386383190 |
462 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243163742 rs1010594118 |
463 | P>L | No |
ClinGen gnomAD |
|
|
CA243163747 rs201045850 |
464 | G>E | No |
ClinGen Ensembl |
|
|
rs904672293 CA243163749 |
469 | I>T | No |
ClinGen TOPMed |
|
|
CA386383340 rs1219832644 |
470 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1592988446 CA386383427 |
474 | E>D | No |
ClinGen Ensembl |
|
|
rs763209722 CA6761485 |
475 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6761486 rs771425977 |
476 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200201951 CA6761490 |
483 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6761489 rs767881017 |
483 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243163788 rs998980723 |
486 | L>V | No |
ClinGen Ensembl |
|
|
CA6761491 rs760091110 |
487 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6761492 rs138892500 |
489 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386383736 COSM1358424 rs1592988540 |
489 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6761493 rs753498446 |
490 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs548690630 CA6761494 |
491 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386383814 rs758369181 |
493 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761497 rs758369181 |
493 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6761496 rs149399749 |
493 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6761499 rs748313205 |
495 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6761500 rs769776674 |
497 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs777841310 CA6761501 |
498 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs199918617 CA6761502 COSM934400 |
500 | R>* | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199918617 CA243163843 |
500 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377149486 CA6761503 |
500 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 503 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243163863 rs775115108 |
503 | L>P | No |
ClinGen Ensembl |
|
|
CA243163884 rs954043220 |
505 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1396440945 CA386383948 |
505 | N>Y | No |
ClinGen gnomAD |
|
|
rs137966176 CA6761506 |
507 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281457649 CA386383998 |
509 | M>L | No |
ClinGen gnomAD |
|
|
CA386384001 rs1374390314 |
509 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1232919671 CA386384006 |
510 | G>R | No |
ClinGen gnomAD |
|
|
rs534367149 CA6761510 |
511 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209138202 CA386384033 |
514 | A>T | No |
ClinGen TOPMed |
|
|
CA386384044 rs1272997817 |
515 | S>L | No |
ClinGen gnomAD |
|
|
rs1206063100 CA386384048 |
516 | P>R | No |
ClinGen gnomAD |
|
|
rs761504217 CA6761511 |
516 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs750201913 CA6761513 |
518 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1419685562 CA386384068 |
519 | N>K | No |
ClinGen gnomAD |
|
|
rs758758933 CA6761512 |
519 | N>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8N4U5
10 regional properties for Q8N4U5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 426 - 641 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 667 - 993 | IPR003439-2 |
| domain | AAA+ ATPase domain | 455 - 616 | IPR003593-1 |
| domain | AAA+ ATPase domain | 693 - 970 | IPR003593-2 |
| domain | Elongation Factor 3, ABC2 domain, chromodomain-like insertion | 794 - 861 | IPR015688 |
| conserved_site | ABC transporter-like, conserved site | 544 - 558 | IPR017871-1 |
| conserved_site | ABC transporter-like, conserved site | 897 - 911 | IPR017871-2 |
| repeat | HEAT, type 2 | 91 - 129 | IPR021133-1 |
| repeat | HEAT, type 2 | 171 - 209 | IPR021133-2 |
| domain | Elongation factor 3, four helical bundle domain | 336 - 411 | IPR040533 |
Functions
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPFNGEKQCV | GEDQPSDSDS | SRFSESMASL | SDYECSRQSF | ASDSSSKSSS | PASTSPPRVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TFDEVMATAR | NLSNLTLAHE | IAVNENFQLK | QEALPEKSLA | GRVKHIVHQA | FWDVLDSELN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ADPPEFEHAI | KLFEEIREIL | LSFLTPGGNR | LRNQICEVLD | TDLIRQQAEH | SAVDIQGLAN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YVISTMGKLC | APVRDNDIRE | LKATGNIVEV | LRQIFHVLDL | MQMDMANFTI | MSLRPHLQRQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVEYERTKFQ | EILEETPSAL | DQTTEWIKES | VNEELFSLSE | SALTPGAENT | SKPSLSPTLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LNNSYLKLLQ | WDYQKKELPE | TLMTDGARLQ | ELTEKLNQLK | IIACLSLITN | NMVGAITGGL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PELASRLTRI | SAVLLEGMNK | ETFNLKEVLN | SIGIQTCVEV | NKTLMERGLP | TLNAEIQANL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IGQFSSIEEE | DNPIWSLIDK | RIKLYMRRLL | CLPSPQKCMP | PMPGGLAVIQ | QELEALGSQY |
| 490 | 500 | 510 | |||
| ANIVNLNKQV | YGPFYANILR | KLLFNEEAMG | KVDASPPTN |