Q8N6K7
PR
Gene name |
SAMD3 |
Protein name |
Sterile alpha motif domain-containing protein 3 |
Names |
SAM domain-containing protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:154075 |
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 Q8N6K7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N6K7-F1 | Predicted | AlphaFoldDB |
427 variants for Q8N6K7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3997347 rs771720481 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1697973 rs1380744383 COSM1697972 CA365633738 |
2 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs113914410 CA147009898 |
5 | S>P | No |
ClinGen Ensembl |
|
|
rs267600804 CA3997344 |
6 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365633662 rs749155291 |
7 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380892661 CA365633650 |
8 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs755821130 CA3997341 |
9 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365633639 rs755821130 |
9 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139026601 CA3997340 |
11 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192954823 CA3997337 |
14 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150807264 CA3997339 |
14 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150807264 CA3997338 |
14 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1488000963 CA365633553 |
15 | E>G | No |
ClinGen gnomAD |
|
|
rs1218626794 CA365633534 |
17 | N>S | No |
ClinGen gnomAD |
|
|
CA3997336 rs369847636 |
19 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
|
CA365633519 rs369847636 |
19 | G>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3997335 rs758994458 |
20 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA147009838 rs907355120 |
22 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3997310 rs141371137 |
29 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765932716 CA365633421 CA365633422 |
31 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3997307 rs762308366 |
33 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147009094 rs762308366 |
33 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776462828 CA3997304 |
34 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs193004422 CA3997305 |
34 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776462828 CA3997303 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA147009033 rs201770356 |
35 | L>F | No |
ClinGen TOPMed |
|
|
rs201770356 CA147009040 |
35 | L>I | No |
ClinGen TOPMed |
|
|
CA365633396 rs1343584978 |
37 | A>P | No |
ClinGen gnomAD |
|
|
CA365633391 rs1455517988 |
38 | L>F | No |
ClinGen Ensembl |
|
|
CA3997301 rs200818614 COSM3777107 COSM314986 |
39 | N>S | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780090662 CA365633370 |
41 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs142796786 CA3997299 |
41 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780090662 CA3997300 |
41 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746002111 CA3997298 |
42 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA365633355 rs1333615584 |
43 | V>G | No |
ClinGen gnomAD |
|
|
CA3997297 rs779120336 |
43 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1562457771 CA365633354 |
44 | Q>* | No |
ClinGen Ensembl |
|
|
CA3997296 rs757887015 |
45 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754363193 CA3997295 |
48 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3997294 rs778310871 |
49 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs143580700 CA3997293 |
50 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365633305 rs1437576490 |
51 | G>E | No |
ClinGen gnomAD |
|
|
CA365633306 rs1157878090 |
51 | G>W | No |
ClinGen gnomAD |
|
|
rs1562457632 COSM1724267 COSM1724268 CA365633295 |
52 | H>Q | NS [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1024980652 CA147008954 |
53 | Q>* | No |
ClinGen TOPMed |
|
|
CA3997291 rs549926643 |
54 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA147008948 rs549926643 |
54 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3997290 rs762666893 |
56 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3997289 rs749961553 |
58 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776512649 CA3997286 |
60 | I>M | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 61 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770241311 | 62 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3997285 rs768461972 |
62 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760330229 CA3997283 |
65 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1311759968 CA365633205 |
66 | N>H | No |
ClinGen gnomAD |
|
|
CA3997281 rs139187903 |
67 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3997280 rs143283725 |
69 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3997278 rs771091095 |
70 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3997276 rs202135795 |
71 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3997275 rs778362097 |
73 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538012184 CA3997274 |
76 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753074013 CA3997273 |
77 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA147008847 rs981401576 |
78 | K>M | No |
ClinGen Ensembl |
|
|
CA365633125 rs1366326490 |
78 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781612209 CA3997272 |
79 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3997271 rs758038774 |
79 | A>V | No |
ClinGen ExAC |
|
|
CA365633116 rs1258837974 |
80 | A>G | No |
ClinGen gnomAD |
|
|
rs569541439 CA3997270 |
80 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149146729 CA3997268 |
81 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763954562 CA3997266 |
82 | V>I | No |
ClinGen ExAC |
|
|
CA3997264 rs775196123 |
83 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA365633092 rs1488100938 |
84 | Q>P | No |
ClinGen gnomAD |
|
|
rs1294103440 CA365633072 |
87 | A>E | No |
ClinGen TOPMed |
|
|
rs991510398 CA147008750 |
89 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759704895 CA3997262 COSM227021 |
89 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1298630417 CA365633058 |
90 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552463317 CA3997260 |
90 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1010788005 CA147004818 |
92 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA147004812 rs267600803 |
93 | D>N | No |
ClinGen Ensembl |
|
|
rs17852709 CA147004806 COSM1544983 VAR_030910 |
94 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
|
rs767234438 CA3997243 |
95 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1416623676 CA365632891 |
95 | E>K | No |
ClinGen TOPMed |
|
|
CA365632841 rs759342186 |
99 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3997242 COSM351322 rs759342186 |
99 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs145766335 CA3997241 |
100 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766772192 CA3997240 |
101 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3997238 rs138130162 |
101 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3997239 rs545913309 |
101 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777618320 CA147004766 |
102 | H>L | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371148224 CA3997237 |
104 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371148224 CA365632791 |
104 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365632776 rs1205628205 |
105 | Q>* | No |
ClinGen TOPMed |
|
|
rs1562450313 CA365632757 |
106 | M>I | No |
ClinGen Ensembl |
|
|
rs1218529024 CA365632729 |
109 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA365632709 rs1276443303 |
110 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147004748 rs866465217 |
111 | P>S | No |
ClinGen Ensembl |
|
|
CA365632682 rs1237601326 |
113 | E>A | No |
ClinGen TOPMed |
|
|
rs1189007066 CA365632687 |
113 | E>K | No |
ClinGen TOPMed |
|
|
rs267600802 CA365632663 |
114 | N>K | No |
ClinGen gnomAD |
|
|
rs1328868875 CA365632572 |
122 | Q>R | No |
ClinGen gnomAD |
|
|
CA3997232 rs542087823 |
123 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365632561 rs542087823 |
123 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs112197738 CA3997231 |
124 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3997230 rs112197738 |
124 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423655842 CA365632521 |
127 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA365632523 rs1423655842 |
127 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA147004707 rs961734594 |
128 | R>T | No |
ClinGen TOPMed |
|
|
rs1408959630 CA365627024 |
129 | R>S | No |
ClinGen gnomAD |
|
|
rs1181417451 CA365627021 |
130 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930859093 CA146988880 |
131 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs150395949 CA3997214 |
132 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211438121 CA365626935 |
133 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 133 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487856971 CA365626847 |
137 | R>K | No |
ClinGen gnomAD |
|
|
CA3997213 rs761146547 |
138 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3997212 rs536643637 |
143 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140727542 CA3997211 |
144 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146866847 CA3997209 |
147 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769188682 CA3997208 |
148 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365626571 rs1481134085 |
148 | V>I | No |
ClinGen TOPMed |
|
|
CA365626462 rs1360416987 |
152 | F>S | No |
ClinGen gnomAD |
|
|
rs532682814 CA3997204 |
156 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403692363 CA365626295 |
157 | K>I | No |
ClinGen gnomAD |
|
|
CA3997202 rs758222319 |
158 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758222319 CA3997203 |
158 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365626110 rs1477481991 |
163 | Q>H | No |
ClinGen gnomAD |
|
|
rs1260918730 CA365626098 |
165 | C>S | No |
ClinGen gnomAD |
|
|
rs750624871 CA3997201 |
166 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365626085 rs1188118842 |
166 | P>S | No |
ClinGen gnomAD |
|
|
CA3997199 rs761938445 |
167 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3997198 rs201522775 |
169 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582834626 CA365626048 |
170 | M>L | No |
ClinGen Ensembl |
|
|
CA365626037 rs1273316288 |
171 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1021774615 CA146988849 |
171 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1273316288 CA365626036 |
171 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764126923 CA3997197 |
173 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs775925671 CA3997195 |
175 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365625988 rs1353964224 |
177 | F>Y | No |
ClinGen TOPMed |
|
|
CA3997194 rs772435858 |
178 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA365625976 rs1293185433 |
178 | L>P | No |
ClinGen gnomAD |
|
|
CA365625964 rs1456618287 |
179 | Q>* | No |
ClinGen gnomAD |
|
|
rs769541819 CA3997191 |
181 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA146988829 rs956208350 |
181 | D>G | No |
ClinGen TOPMed |
|
|
VAR_069418 CA3997192 rs150968705 |
181 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365625927 rs1334150458 |
182 | M>T | No |
ClinGen gnomAD |
|
|
CA365625908 rs1421390690 |
183 | T>S | No |
ClinGen gnomAD |
|
|
CA365625815 rs1428919108 |
190 | L>P | No |
ClinGen gnomAD |
|
|
CA365625750 rs1258614140 |
191 | Y>C | No |
ClinGen gnomAD |
|
|
CA365625708 rs1401277284 |
194 | T>S | No |
ClinGen TOPMed |
|
|
CA146988703 rs554657986 |
195 | Q>* | No |
ClinGen gnomAD |
|
|
rs776378226 CA3997171 |
198 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746454475 CA365625611 |
200 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3997169 rs746454475 |
200 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370463894 CA146988689 |
203 | A>S | No |
ClinGen ESP TOPMed |
|
|
COSM303149 CA146988686 rs868263287 |
203 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1313095555 CA365625548 |
205 | L>R | No |
ClinGen TOPMed |
|
|
CA365625542 rs1239640517 |
206 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs142555156 CA3997166 |
206 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365625526 rs756951992 |
207 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3997164 rs756951992 |
207 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3997163 rs749538890 |
208 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365625500 rs547076728 |
209 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA146988664 rs547076728 |
209 | P>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1436370585 CA365625505 |
209 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144450186 CA3997160 |
211 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866982660 CA146988657 |
213 | E>K | No |
ClinGen TOPMed |
|
|
rs993406200 CA146988655 |
214 | D>N | No |
ClinGen TOPMed |
|
|
CA3997159 rs767559988 |
216 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs755551481 CA3997158 |
216 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs144159261 CA3997157 |
217 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs766792443 | 218 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385217966 COSM1664033 CA365623470 |
219 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs750368407 CA3997081 |
220 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3997079 rs147217519 |
221 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3997078 rs761724975 |
222 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs776339983 CA3997077 |
223 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365623397 rs763920331 |
223 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763920331 CA3997076 |
223 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs929245186 CA146985648 |
224 | A>V | No |
ClinGen Ensembl |
|
|
CA3997074 COSM1073194 rs201988282 |
228 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. skin endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3997073 rs772791075 |
228 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365623350 rs201988282 |
228 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455218514 CA365623281 |
232 | V>I | No |
ClinGen gnomAD |
|
|
COSM164161 rs1253128406 CA365623265 |
233 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3997071 rs774559077 |
233 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA146985636 rs138096133 |
234 | R>S | No |
ClinGen ESP |
|
|
CA365623226 rs1582798619 |
235 | P>L | No |
ClinGen Ensembl |
|
|
CA3997069 rs749768652 |
236 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756449318 CA3997066 |
237 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207074743 COSM1697963 CA365623213 |
237 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3997065 rs141904490 |
240 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141904490 CA365623187 |
240 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365623179 rs1304326727 |
241 | Q>K | No |
ClinGen gnomAD |
|
|
CA146985619 rs779617639 |
241 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3997064 rs779617639 |
241 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758045930 CA3997063 |
244 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3997062 rs749997762 |
245 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1364069036 CA365623140 |
247 | C>S | No |
ClinGen TOPMed |
|
|
CA146985609 rs977552056 |
251 | H>Q | No |
ClinGen TOPMed |
|
|
rs1462324851 CA365623089 |
252 | R>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 252 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3997061 rs199973062 |
252 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436255165 CA365623078 |
253 | R>I | No |
ClinGen gnomAD |
|
|
CA3997059 rs200849847 |
254 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3997057 rs760449883 |
255 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA3997055 rs767906146 |
257 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA365623041 rs1375308322 |
258 | K>E | No |
ClinGen TOPMed |
|
|
CA365623011 rs1483648170 |
260 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs774612312 CA3997053 |
262 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3997050 rs773713678 |
263 | I>M | No |
ClinGen ExAC |
|
|
CA3997051 rs763390626 |
263 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3997052 rs374871879 |
263 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365622949 rs1340128038 |
266 | D>G | No |
ClinGen TOPMed |
|
|
rs1334005793 CA365622954 |
266 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365622935 rs1309100469 |
267 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1391937284 CA365622927 |
268 | I>F | No |
ClinGen gnomAD |
|
|
CA365622915 rs1354716656 |
269 | K>T | No |
ClinGen gnomAD |
|
|
CA365622892 rs1267316916 |
271 | V>G | No |
ClinGen TOPMed |
|
|
CA146985585 rs1032338058 |
273 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1562398213 CA365622866 |
274 | K>E | No |
ClinGen Ensembl |
|
|
CA3997049 rs770059830 |
274 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs768973043 CA3997028 COSM72536 |
277 | A>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3997027 rs745544592 |
278 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3997026 rs778481196 |
279 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1634488 CA3997024 rs770482871 |
281 | D>Y | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1416014207 CA365630390 |
283 | E>G | No |
ClinGen TOPMed |
|
|
rs867745323 CA147023849 |
285 | D>V | No |
ClinGen TOPMed |
|
|
CA365630354 rs1164116633 |
286 | E>Q | No |
ClinGen TOPMed |
|
|
rs374579204 CA3997023 |
287 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756112121 CA3997021 |
289 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3997020 rs752642104 |
292 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA3997019 rs781156054 |
293 | Q>H | No |
ClinGen ExAC |
|
| TCGA novel | 294 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3997018 rs754761639 |
296 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365630228 rs1562374075 |
299 | E>G | No |
ClinGen Ensembl |
|
|
CA3997017 rs751837474 |
300 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365630214 rs1380758942 |
301 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA147023772 rs969960302 |
301 | D>N | No |
ClinGen gnomAD |
|
|
CA3997014 rs750566337 |
302 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA365630210 rs553683601 |
302 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3997016 rs553683601 CA3997015 |
302 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281975479 CA365630202 |
303 | R>K | No |
ClinGen TOPMed |
|
|
CA3997013 rs765205435 |
304 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3997012 rs371029082 |
305 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA365630180 rs1436568052 |
306 | D>A | No |
ClinGen gnomAD |
|
|
rs777076452 CA3997010 |
307 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA365630173 rs1328708489 |
307 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1328708489 CA365630174 |
307 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 308 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3997009 rs764458217 |
309 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365630161 rs1408599867 |
309 | M>V | No |
ClinGen gnomAD |
|
|
CA3997008 rs143661790 |
310 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs535374820 CA3997007 |
311 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365630117 rs1195580883 |
315 | I>L | No |
ClinGen gnomAD |
|
|
rs1439458657 CA365630085 CA365630083 |
319 | M>I | No |
ClinGen gnomAD |
|
|
CA3997002 rs769135907 |
319 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1562373824 CA365630087 |
319 | M>T | No |
ClinGen Ensembl |
|
|
rs140462541 CA3997000 |
320 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM241512 CA365630073 rs1209874467 |
321 | G>D | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3996997 rs537506067 |
322 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758688239 CA3996996 |
323 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765384203 CA3996993 |
323 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765384203 COSM1224615 CA3996994 |
323 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA365630056 rs1279522104 |
324 | T>I | No |
ClinGen gnomAD |
|
|
CA147023521 rs868114579 |
325 | P>F | No |
ClinGen Ensembl |
|
|
CA3996991 rs139041970 |
326 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3996989 rs140583847 |
329 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA147023466 rs891279951 |
332 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs775960481 CA3996988 |
335 | F>S | No |
ClinGen ExAC gnomAD |
|
|
COSM740184 CA3996985 rs772681255 |
339 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA365629957 rs772681255 |
339 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365628463 rs1217324199 |
342 | M>T | No |
ClinGen gnomAD |
|
|
rs1224304115 CA365628451 |
343 | F>L | No |
ClinGen TOPMed |
|
|
CA147014678 rs1012355745 |
344 | R>T | No |
ClinGen Ensembl |
|
|
CA3996956 rs768241595 |
345 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs776321996 CA3996957 |
345 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs564863133 CA3996955 |
346 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs895419932 CA365628354 |
349 | L>H | No |
ClinGen gnomAD |
|
|
rs895419932 CA147014647 |
349 | L>P | No |
ClinGen gnomAD |
|
|
rs1361533264 CA365628340 |
350 | T>I | No |
ClinGen gnomAD |
|
|
CA365628338 rs1268581241 |
351 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1582701249 CA365628332 |
351 | R>T | No |
ClinGen Ensembl |
|
|
rs199770441 CA147014645 |
352 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3996951 rs199770441 |
352 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1389421248 CA365628311 |
353 | D>Y | No |
ClinGen gnomAD |
|
|
CA147014626 rs1032590493 |
355 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA147014621 rs1001484359 |
356 | K>N | No |
ClinGen Ensembl |
|
|
rs749467124 CA3996947 |
358 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365628210 rs1427638819 |
358 | T>K | No |
ClinGen gnomAD |
|
|
rs749467124 CA3996948 |
358 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365628178 rs1190059067 |
360 | H>N | No |
ClinGen gnomAD |
|
|
CA365628113 rs753252267 CA3996943 |
362 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs141367827 CA3996944 |
362 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000039284 CA147014600 |
364 | S>P | No |
ClinGen TOPMed |
|
|
CA365628073 rs1421950365 |
365 | Y>H | No |
ClinGen TOPMed |
|
|
rs540276793 CA3996937 |
369 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3996936 rs41285306 |
371 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3996934 rs753496193 |
374 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs760039923 CA3996932 |
379 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1313989735 CA365627759 |
381 | N>D | No |
ClinGen TOPMed |
|
|
rs1562361984 CA365627750 |
381 | N>S | No |
ClinGen Ensembl |
|
|
rs775064833 CA3996931 |
383 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774159272 CA365627666 |
385 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs759483700 CA3996929 |
385 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3996927 rs377561593 |
386 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs557211247 CA3996926 |
387 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365627634 rs557211247 |
387 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867904063 CA147014422 |
388 | M>I | No |
ClinGen Ensembl |
|
| rs772058906 | 388 | M>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192244520 CA365627574 |
390 | H>R | No |
ClinGen gnomAD |
|
|
CA3996923 rs777904214 |
391 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1343253522 CA365627542 |
393 | D>H | No |
ClinGen Ensembl |
|
|
CA147014377 rs926886009 |
394 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 394 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3996920 rs748232522 |
395 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 395 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365627503 rs1232204454 |
396 | M>T | No |
ClinGen gnomAD |
|
|
CA3996918 rs781311803 |
399 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1450920230 CA365626753 |
400 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770870295 CA147013739 |
400 | M>T | No |
ClinGen Ensembl |
|
|
rs1478971212 CA365626697 |
402 | M>I | No |
ClinGen TOPMed |
|
|
rs1582698522 CA365626694 |
403 | T>P | No |
ClinGen Ensembl |
|
|
rs1410425658 CA365626666 |
404 | A>D | No |
ClinGen gnomAD |
|
|
rs776607929 CA147013732 |
406 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776607929 CA3996900 |
406 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365626552 rs1185846843 |
408 | L>F | No |
ClinGen gnomAD |
|
|
rs1425846455 CA365626551 |
408 | L>H | No |
ClinGen gnomAD |
|
|
rs1204644071 CA365626514 |
410 | P>Q | No |
ClinGen gnomAD |
|
|
CA365626516 rs1402676579 |
410 | P>S | No |
ClinGen gnomAD |
|
|
rs758972799 CA3996896 |
411 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758972799 CA3996895 |
411 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377626371 CA3996894 |
412 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 415 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338160049 CA365626377 |
416 | D>E | No |
ClinGen TOPMed |
|
|
rs779302536 CA3996893 |
420 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 420 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3996892 rs755751457 |
420 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752340823 CA3996890 |
423 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA365626074 rs1390250881 COSM1073188 |
426 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3996873 rs772759044 |
427 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA147013140 rs928511938 |
429 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 430 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374009932 CA147013133 |
431 | T>I | No |
ClinGen ESP |
|
|
rs779164883 CA3996871 |
432 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3996870 rs771265992 |
433 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs752786471 CA3996866 |
437 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3996865 rs369863649 |
438 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365625851 rs779507039 |
438 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147013090 rs1005943455 |
439 | P>A | No |
ClinGen TOPMed |
|
|
rs767522692 CA147013089 |
440 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377085950 CA3996862 |
442 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3996860 rs61737599 |
443 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61737599 CA3996861 |
443 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373806598 CA365625774 COSM402815 |
445 | C>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3996857 rs372610425 |
446 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3996858 COSM203908 rs144249057 |
446 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1562359701 CA365625736 |
448 | S>Y | No |
ClinGen Ensembl |
|
|
CA3996854 rs772227300 |
449 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365625718 rs1582695911 |
450 | Y>H | No |
ClinGen Ensembl |
|
|
CA365625685 rs1330730293 |
452 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA365625691 rs1330730293 |
452 | E>K | No |
ClinGen TOPMed |
|
|
rs1324118212 CA365625650 |
455 | R>G | No |
ClinGen gnomAD |
|
|
CA3996852 rs774850450 |
458 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760129367 CA3996853 |
458 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs749719704 CA3996849 |
460 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3996851 rs140284624 |
460 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147013008 rs901421604 |
461 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201831635 CA3996848 |
461 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3996846 rs746625367 |
462 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757352210 CA147012916 |
466 | L>S | No |
ClinGen Ensembl |
|
|
CA3996841 rs140029919 |
468 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750333082 CA3996843 |
468 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140029919 CA3996842 |
468 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368648301 CA3996838 |
469 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3996835 rs767707486 COSM594002 |
473 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA365625443 rs767707486 |
473 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3996833 rs774279710 |
479 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1161804285 CA365625360 |
480 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 481 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147012837 rs766207441 |
483 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs961087676 CA147012828 |
483 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3996832 rs771515559 |
484 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1170165317 CA365625326 |
485 | S>F | No |
ClinGen TOPMed |
|
|
rs1449083462 CA365625320 |
486 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762836722 CA147012827 |
486 | Q>P | No |
ClinGen TOPMed |
|
|
rs763337454 CA3996831 |
489 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1330884176 CA365625272 |
491 | L>R | No |
ClinGen TOPMed |
|
|
CA3996829 rs770095979 |
492 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs746678224 CA3996828 |
493 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771708867 CA3996826 |
495 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1268091630 CA365625237 |
495 | I>V | No |
ClinGen gnomAD |
|
|
CA3996822 rs749128439 |
497 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3996824 rs757262361 |
497 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757262361 CA3996823 |
497 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365625221 rs749128439 |
497 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286156696 CA365625195 |
500 | S>G | No |
ClinGen gnomAD |
|
|
rs1562359151 CA365625172 |
502 | Y>C | No |
ClinGen Ensembl |
|
|
CA365625142 rs1562359108 |
504 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3996818 rs755903898 |
506 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1318567163 CA365625111 |
506 | L>W | No |
ClinGen gnomAD |
|
|
CA3996815 rs375390401 |
510 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365624968 rs766329291 |
512 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs766329291 CA3996812 |
512 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1440432 rs371432532 CA3996813 |
512 | E>K | large_intestine Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
rs1034013812 CA147012703 |
513 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs367601593 CA3996811 |
513 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773652776 CA3996810 |
514 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147012696 rs909025791 |
519 | L>V | No |
ClinGen TOPMed |
No associated diseases with Q8N6K7
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 |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8C4H2 | Samd3 | Sterile alpha motif domain-containing protein 3 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| METWSVEQVC | SWLVEKNLGE | LVHRFQEEEV | SGAALLALND | RMVQQLVKKI | GHQAVLMDLI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKYKQNTQGL | KSPENPKKAA | LVMQTEAARD | YRDEESSSPA | RHGEQMPSFY | PAENLDNGLI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DQRVLKQRRN | VKQILARSKA | LQWTKSYVLP | EFPYDVKCML | AEQKCPDHSM | RIRIIEFLQA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DMTKYLEGSL | YPSTQQYNDV | VNALLQAHPF | LDEDGCGFFL | WKRALKDRFK | YVRRPIEDDE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVIRNKCKFG | HRRGQTRKSL | ADIRFDEIKL | VQIKEEAVCF | DSELDEHIKW | FQQEYVKTEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DWREIDKRMS | QTLEIRRKMI | GSRTPLKDIL | KLFPFLKCPY | QMFREFQLLT | RTDIYKKTRH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ILESYSENIL | TSFSVVDNPI | NIVLQEKMKH | YTDEDMLKYM | KMTATCLLLP | DVFGDDPSLF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VIMNEQVQVS | TPVLEVKNPF | NMEVCEFSLY | LERERLTKVD | DCVTALAALV | AAFHVFRIEC |
| 490 | 500 | 510 | |||
| PRRLSQTFNF | LETLIFDMHS | PYFPSLKEKE | NEVGFQHPLT |