Q969R5
PR
Gene name |
L3MBTL2 |
Protein name |
Lethal(3)malignant brain tumor-like protein 2 |
Names |
H-l(3)mbt-like protein 2, L(3)mbt-like protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83746 |
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
4 structures for Q969R5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2W0T | NMR | - | A | 82-124 | PDB |
| 3CEY | X-ray | 220 A | A/B | 170-625 | PDB |
| 3F70 | X-ray | 210 A | A/B | 170-625 | PDB |
| AF-Q969R5-F1 | Predicted | AlphaFoldDB |
508 variants for Q969R5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411688398 rs1315103508 |
3 | K>E | No |
ClinGen gnomAD |
|
|
CA411688413 CA10254109 rs762505607 |
3 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254110 rs766195010 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs961208743 CA324538575 |
5 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs916600916 CA324538576 |
5 | R>P | No |
ClinGen Ensembl |
|
|
rs961208743 CA411688433 |
5 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1288938055 CA411688445 |
6 | S>G | No |
ClinGen TOPMed |
|
|
CA411688452 rs1411525496 |
6 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs3804097 CA10254113 |
7 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10254112 VAR_033998 rs3804097 |
7 | I>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA411688959 rs1434681918 |
11 | P>T | No |
ClinGen TOPMed |
|
|
CA10254146 rs755368306 |
13 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs551286952 CA10254147 |
14 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1218469451 CA411688985 |
15 | P>S | No |
ClinGen gnomAD |
|
|
rs1569135864 CA411688993 |
16 | M>T | No |
ClinGen Ensembl |
|
|
CA10254148 rs367908530 |
16 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411688998 rs1569135887 |
17 | E>Q | No |
ClinGen Ensembl |
|
|
rs770381464 CA10254149 |
18 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778602850 CA10254150 |
21 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA10254152 rs201966770 |
22 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1034584 rs148691612 CA10254153 |
23 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA411689079 rs966294914 |
24 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 25 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10254154 rs760177109 |
28 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1478286713 CA411689125 |
28 | G>S | No |
ClinGen TOPMed |
|
|
rs1055974350 CA324542801 |
33 | F>C | No |
ClinGen Ensembl |
|
|
rs1300382050 CA411689203 |
33 | F>L | No |
ClinGen gnomAD |
|
|
rs143455680 RCV000950875 CA10254157 |
34 | R>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411689209 rs143455680 |
34 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10254156 rs776241993 |
34 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs765129473 CA10254158 |
36 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs370002474 CA324542831 |
39 | S>T | No |
ClinGen ESP |
|
|
CA10254159 rs750554017 |
40 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569135961 CA411689306 |
41 | G>D | No |
ClinGen Ensembl |
|
|
rs763012272 CA10254160 |
41 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763012272 CA411689300 |
41 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1313777579 CA411689316 |
42 | S>N | No |
ClinGen gnomAD |
|
|
CA411689343 rs1569135978 |
44 | S>G | No |
ClinGen Ensembl |
|
|
CA324542855 rs995621878 |
44 | S>N | No |
ClinGen Ensembl |
|
|
rs150194965 CA411689365 |
45 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1242246161 CA411689374 |
45 | S>R | No |
ClinGen gnomAD |
|
|
CA10254161 rs150194965 |
45 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA324542859 rs978717397 |
47 | Y>S | No |
ClinGen TOPMed |
|
|
rs751814027 CA10254162 |
49 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10254163 rs755103717 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781641603 CA10254164 |
55 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM124054 rs1484380791 CA411689450 |
57 | E>K | lung upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10254167 rs200847631 |
59 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200847631 CA10254166 |
59 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10254165 rs753075698 COSM445044 |
59 | R>W | Variant assessed as Somatic; 4.621e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1398681626 CA411689485 |
62 | G>A | No |
ClinGen TOPMed |
|
|
CA10254170 rs779371352 |
62 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs866107877 CA324542890 |
65 | P>S | No |
ClinGen Ensembl |
|
|
rs150955023 CA10254173 |
66 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411689528 rs1335425114 |
67 | S>F | No |
ClinGen gnomAD |
|
|
CA10254175 rs769785109 |
68 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766500016 CA10254178 |
70 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs957321378 COSM294513 CA324542950 |
72 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA411689580 rs1202022235 |
72 | L>P | No |
ClinGen gnomAD |
|
|
CA411689582 rs1202022235 |
72 | L>R | No |
ClinGen gnomAD |
|
|
rs199991179 CA10254183 |
73 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231641540 CA411689610 |
74 | P>L | No |
ClinGen gnomAD |
|
|
rs764485069 CA10254184 |
75 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs754408349 CA10254185 |
77 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757658552 CA10254186 COSM3785559 |
78 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs369021229 CA324543010 |
78 | R>H | No |
ClinGen ESP TOPMed |
|
|
rs746470505 CA10254188 |
79 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA411689673 rs1466709565 |
80 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs780813944 CA10254190 |
82 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA324543044 rs981105255 |
83 | S>G | No |
ClinGen Ensembl |
|
|
CA411689711 rs1335050767 |
83 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA411689725 rs1437133394 |
84 | G>D | No |
ClinGen gnomAD |
|
|
rs5751066 CA324543045 |
85 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 90 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411690677 rs1490013562 |
96 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749010907 CA10254212 |
101 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359546570 CA411690807 |
101 | A>V | No |
ClinGen TOPMed |
|
|
CA324551485 rs376615950 |
107 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA411690999 rs1190581021 |
112 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411692075 rs1382161315 |
134 | K>R | No |
ClinGen gnomAD |
|
|
rs1451333652 CA411692090 |
136 | P>L | No |
ClinGen gnomAD |
|
|
rs1384474613 CA411692159 |
142 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10254236 rs780322228 |
144 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1219743210 CA411692230 |
147 | A>G | No |
ClinGen TOPMed |
|
|
CA411692224 rs1257983358 |
147 | A>T | No |
ClinGen TOPMed |
|
|
rs769058510 CA10254237 |
149 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 159 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324553262 rs898480790 |
159 | Q>K | No |
ClinGen Ensembl |
|
|
CA10254240 rs377308699 |
161 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10254242 rs763485284 |
163 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773579150 CA10254241 |
163 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs766846536 CA10254243 |
164 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs752257584 CA10254244 |
164 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA411692478 rs1460478247 |
166 | D>G | No |
ClinGen gnomAD |
|
|
rs1417270383 CA411692542 |
172 | Q>K | No |
ClinGen gnomAD |
|
|
rs554400330 CA10254247 |
173 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10254249 rs778603987 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748231394 CA10254276 |
175 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA411693463 rs1456822070 |
176 | V>A | No |
ClinGen TOPMed |
|
|
rs778048429 CA10254278 |
177 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs774647469 CA411693524 |
180 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs774647469 CA10254281 COSM1034585 |
180 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1267936606 CA411693542 |
181 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746404684 CA411693545 |
181 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA10254282 rs746404684 |
181 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA411693544 rs1267936606 |
181 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1219916176 CA411693540 |
181 | W>R | No |
ClinGen gnomAD |
|
|
CA411693553 rs1187327342 |
183 | K>* | No |
ClinGen gnomAD |
|
|
CA411693554 rs1187327342 |
183 | K>E | No |
ClinGen gnomAD |
|
|
rs1421995587 CA411693558 |
183 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776055131 CA10254284 |
185 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA411693579 rs1427132098 |
186 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs764867743 CA10254286 COSM1495281 |
186 | K>R | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA324553937 rs916507590 |
187 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411693580 rs1301613577 |
187 | D>N | No |
ClinGen gnomAD |
|
|
CA324553940 rs200095149 |
188 | H>Y | No |
ClinGen TOPMed |
|
|
CA411693595 rs1401057364 |
189 | S>G | No |
ClinGen gnomAD |
|
|
rs773005100 CA10254287 |
190 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254288 rs762639588 |
191 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs766301502 CA10254289 |
191 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312847085 CA411693616 |
192 | A>P | No |
ClinGen gnomAD |
|
|
CA10254290 rs751364578 |
192 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10254291 rs759435171 |
193 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376044538 CA10254297 |
195 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10254295 rs756220378 |
195 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254294 rs756220378 |
195 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254296 rs756220378 |
195 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411693642 rs1485035327 |
197 | C>R | No |
ClinGen gnomAD |
|
|
rs1185958156 CA411693656 |
198 | F>L | No |
ClinGen gnomAD |
|
|
CA411693672 rs779290651 |
200 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411693665 rs1243836290 |
200 | H>Y | No |
ClinGen gnomAD |
|
|
rs1245107221 CA411694208 |
201 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759050199 CA10254327 |
204 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326750838 CA411694270 |
206 | Q>E | No |
ClinGen gnomAD |
|
|
rs771920200 CA411694300 |
209 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254329 rs775106353 |
214 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA411694346 rs1347565049 |
216 | V>M | No |
ClinGen gnomAD |
|
|
CA411694368 rs1569145051 |
219 | L>F | No |
ClinGen Ensembl |
|
|
rs558935998 CA10254330 |
223 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10254331 rs763997489 |
224 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254332 rs763997489 |
224 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765234040 CA10254334 |
228 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761878042 CA10254333 |
228 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758501551 CA10254336 |
230 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA411694444 rs1223624810 |
231 | W>* | No |
ClinGen gnomAD |
|
|
CA10254337 rs766800612 |
232 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755596209 CA10254339 |
233 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755596209 CA10254340 |
233 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601518174 CA411694463 |
234 | S>F | No |
ClinGen Ensembl |
|
|
CA10254342 rs756837073 |
234 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA411694477 rs1278568766 |
236 | I>M | No |
ClinGen TOPMed |
|
|
rs1423732742 CA411694897 |
240 | G>E | No |
ClinGen gnomAD |
|
|
rs1375713424 CA411694913 |
241 | Y>S | No |
ClinGen gnomAD |
|
|
rs372607973 CA10254359 |
242 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372607973 CA10254358 |
242 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10254357 rs752023798 |
242 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10254360 rs753275913 |
243 | V>G | No |
ClinGen ExAC |
|
|
CA10254363 rs745347032 |
246 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778523048 CA10254362 |
246 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779568000 CA10254366 |
247 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779568000 CA10254365 |
247 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1034176964 CA324556683 |
248 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1261699495 CA411695073 |
251 | E>G | No |
ClinGen gnomAD |
|
|
rs768453755 CA10254367 |
251 | E>K | No |
ClinGen ExAC |
|
|
rs769589978 CA10254370 |
253 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs35244576 CA10254372 |
253 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10254368 rs776362448 |
253 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254369 rs776362448 |
253 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254373 rs771255844 |
254 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771255844 CA10254374 |
254 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241156165 CA411695159 |
256 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1241156165 CA411695157 |
256 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1184945439 CA411695152 |
256 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1569146312 CA411695167 |
257 | D>N | No |
ClinGen Ensembl |
|
|
rs141868075 CA10254375 |
258 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768022587 CA10254376 |
260 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761311397 CA10254378 |
265 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237576067 CA411695252 |
265 | V>M | No |
ClinGen gnomAD |
|
|
rs1601521344 CA411695268 |
267 | V>G | No |
ClinGen Ensembl |
|
|
rs757850956 CA10254381 |
269 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1180695815 CA411695312 |
270 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411695359 rs1269791059 |
272 | W>* | No |
ClinGen TOPMed |
|
|
rs779559268 CA10254382 |
273 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA10254383 rs751236488 |
273 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA324556782 rs199915498 |
275 | I>M | No |
ClinGen Ensembl |
|
|
CA411695408 rs1395971180 |
275 | I>T | No |
ClinGen gnomAD |
|
|
CA411695424 rs1308070083 |
276 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10254384 rs754587142 |
277 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1250725633 CA411695539 |
283 | P>A | No |
ClinGen TOPMed |
|
|
CA411695544 rs747918741 |
283 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747918741 CA10254386 |
283 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747918741 CA411695542 |
283 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411695551 rs1204966466 |
284 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10254388 rs769831418 |
284 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254390 rs770934566 |
285 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891816089 CA324557251 |
288 | A>T | No |
ClinGen Ensembl |
|
|
CA411695645 rs1366581443 |
288 | A>V | No |
ClinGen gnomAD |
|
|
rs952707948 CA324557264 |
289 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA411695682 rs1300885573 |
291 | T>S | No |
ClinGen gnomAD |
|
|
rs771463512 CA10254414 |
292 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254413 rs745928119 |
292 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745928119 CA411695686 |
292 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411695713 rs1569146861 |
294 | K>R | No |
ClinGen Ensembl |
|
|
CA411695729 rs1367404551 |
295 | G>D | No |
ClinGen TOPMed |
|
|
rs1305634506 CA411695723 |
295 | G>S | No |
ClinGen gnomAD |
|
|
rs759948561 CA324557303 |
296 | Y>H | No |
ClinGen gnomAD |
|
|
rs759948561 CA324557299 |
296 | Y>N | No |
ClinGen gnomAD |
|
|
CA10254415 rs369673760 |
298 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774935410 CA324557334 |
300 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs2277846 VAR_015093 CA10254416 |
300 | R>W | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs75888626 CA10254417 |
301 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10254418 rs200870155 |
302 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1386466469 CA411695849 |
306 | T>M | No |
ClinGen gnomAD |
|
|
rs1348885582 CA411695864 |
308 | P>T | No |
ClinGen gnomAD |
|
|
CA411695879 rs374138813 |
309 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10254421 rs374138813 |
309 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA411695905 rs1251511940 |
311 | F>V | No |
ClinGen gnomAD |
|
|
rs1294651236 CA411695929 |
312 | H>Y | No |
ClinGen TOPMed |
|
|
CA10254444 rs775030325 |
316 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA411696860 rs775030325 |
316 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1206993253 CA411696881 |
319 | M>L | No |
ClinGen gnomAD |
|
|
CA10254447 rs753653854 |
326 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270655286 CA411697043 |
332 | V>L | No |
ClinGen gnomAD |
|
|
rs1476736161 CA411697123 |
336 | Q>H | No |
ClinGen gnomAD |
|
|
CA411697118 rs1229542516 |
336 | Q>R | No |
ClinGen TOPMed |
|
|
VAR_061675 rs34289721 CA10254449 |
337 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411697177 rs1420087013 |
339 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1411607374 CA411697179 |
339 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10254451 rs758308136 |
340 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA411697200 rs1405395333 |
341 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10254452 rs368713828 |
341 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411697209 rs1333088286 |
342 | M>V | No |
ClinGen gnomAD |
|
|
rs1274350487 CA411697265 |
346 | D>G | No |
ClinGen gnomAD |
|
|
CA324559762 COSM1734470 rs1052928479 |
350 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs754952611 CA10254454 |
352 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411697337 rs1273176697 |
352 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 352 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10254456 rs748240301 |
354 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1293438850 CA411697389 |
357 | Y>F | No |
ClinGen gnomAD |
|
|
CA411697397 rs1464006642 |
358 | E>K | No |
ClinGen TOPMed |
|
|
CA411697433 rs1197483302 |
360 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA324559801 rs1022715723 |
362 | S>N | No |
ClinGen TOPMed |
|
|
CA10254459 rs144975857 |
364 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774950861 CA10254461 |
365 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393086112 CA411697543 |
367 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1165275579 CA411697535 |
367 | W>S | No |
ClinGen gnomAD |
|
|
CA324559831 rs778946775 |
370 | M>L | No |
ClinGen Ensembl |
|
|
rs1377693265 CA411697578 |
370 | M>R | No |
ClinGen gnomAD |
|
|
CA10254463 rs768261114 |
373 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1327085556 CA411697630 |
374 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10254465 rs776193479 |
374 | L>V | No |
ClinGen ExAC |
|
|
CA411697665 rs1365138396 |
377 | P>S | No |
ClinGen gnomAD |
|
|
CA411697688 rs1247105996 |
378 | V>G | No |
ClinGen gnomAD |
|
|
rs765235272 CA10254468 |
379 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10254469 rs750415998 |
382 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM282337 CA10254470 rs368347054 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10254471 rs374904653 |
383 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411697797 rs374904653 |
383 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324559886 rs947822221 |
383 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA411697801 rs947822221 |
383 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1247298272 CA411697808 |
384 | V>M | No |
ClinGen gnomAD |
|
|
CA411697843 rs1312802756 |
385 | G>V | No |
ClinGen TOPMed |
|
|
rs755221041 CA10254473 |
387 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411697979 rs1472376469 |
390 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA324559906 rs1005188238 |
390 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10254495 COSM1034588 rs151151722 |
394 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1254128545 CA411698173 |
395 | S>N | No |
ClinGen gnomAD |
|
|
CA411698191 rs1213068129 |
396 | D>G | No |
ClinGen TOPMed |
|
|
rs753987189 CA10254496 |
397 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324560443 rs866568050 |
399 | H>N | No |
ClinGen Ensembl |
|
|
CA411698264 rs1253706948 |
401 | P>A | No |
ClinGen gnomAD |
|
|
CA10254499 rs746212038 |
402 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779338410 CA10254498 |
402 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201964967 CA10254502 |
404 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780943275 CA10254501 |
404 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10254503 rs769361080 |
406 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411698998 rs1417295274 |
408 | C>S | No |
ClinGen TOPMed |
|
|
rs748862413 CA10254505 |
409 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141102760 CA10254507 |
411 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411699290 rs748795661 |
418 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10254522 rs748795661 |
418 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1034589 CA10254523 rs770374429 |
419 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA411699305 rs770374429 |
419 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774290679 CA10254524 |
419 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459121283 CA411699334 |
420 | A>E | No |
ClinGen gnomAD |
|
|
rs1486995792 CA411699417 |
425 | G>S | No |
ClinGen TOPMed |
|
|
rs1382351175 CA411699434 |
426 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs775254420 CA10254527 |
426 | G>S | No |
ClinGen ExAC |
|
|
rs760514456 CA10254528 |
428 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA411699469 rs1362988264 |
428 | F>V | No |
ClinGen gnomAD |
|
|
CA411699536 rs1315488424 |
431 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA411699533 rs1315488424 |
431 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA411699543 rs1601531292 |
432 | M>L | No |
ClinGen Ensembl |
|
|
CA10254530 rs776869831 |
433 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254532 rs765244624 |
436 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1209472980 CA411699623 |
437 | I>T | No |
ClinGen gnomAD |
|
|
rs1448215540 CA411699630 |
438 | D>Y | No |
ClinGen gnomAD |
|
|
CA411699649 rs1173213497 |
439 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 442 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10254536 rs751947325 |
445 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1295719296 CA411699761 |
446 | C>S | No |
ClinGen TOPMed |
|
|
CA10254538 rs141817855 |
447 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160541004 CA411700172 |
453 | V>A | No |
ClinGen gnomAD |
|
|
CA10254568 rs748031196 |
456 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1183882894 CA411700373 |
461 | I>T | No |
ClinGen gnomAD |
|
|
rs1368413899 CA411700407 |
462 | C>Y | No |
ClinGen gnomAD |
|
|
rs1008174970 CA324561382 |
463 | V>M | No |
ClinGen Ensembl |
|
|
rs773521516 CA10254570 |
464 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10254572 rs374537053 |
465 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411700501 rs1446386426 |
467 | P>S | No |
ClinGen gnomAD |
|
|
CA411700544 rs1167079101 |
469 | T>I | No |
ClinGen TOPMed |
|
|
CA10254575 rs760119413 |
473 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA411700596 rs1418814699 |
473 | D>N | No |
ClinGen TOPMed |
|
|
CA411700672 rs201008262 |
477 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10254576 rs201008262 |
477 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752984325 CA10254577 |
478 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411700717 rs1409236896 |
480 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 481 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370275224 CA411700766 COSM1416503 |
483 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10254580 rs750113618 |
486 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1466384203 CA411700935 |
492 | K>N | No |
ClinGen TOPMed |
|
|
CA324561444 rs913589961 |
493 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 494 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765878433 CA10254582 COSM139232 |
499 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1049489732 CA324561447 |
499 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411701146 rs1306426125 |
501 | K>T | No |
ClinGen TOPMed |
|
|
rs755804598 CA10254607 |
504 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777624363 CA10254608 |
505 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1466212577 CA411701477 |
506 | Q>R | No |
ClinGen gnomAD |
|
|
rs757533541 CA10254610 |
507 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10254611 rs779320738 |
508 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10254612 CA10254613 rs149593036 |
508 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411701540 rs1569151761 |
509 | N>T | No |
ClinGen Ensembl |
|
|
rs1465727939 CA411701608 |
512 | N>S | No |
ClinGen Ensembl |
|
|
CA10254614 rs775803699 |
513 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411701618 rs1164028714 |
513 | Y>H | No |
ClinGen gnomAD |
|
|
rs769109276 CA10254616 |
514 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA10254617 rs569908148 |
515 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA324561926 rs749947328 |
518 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1481374909 CA411701874 |
521 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs555547448 COSM291038 CA10254620 |
522 | A>T | large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs758916893 CA10254621 |
524 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 527 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10254623 rs752219568 |
527 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA10254625 rs764178542 |
529 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs760652103 CA10254624 |
529 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10254643 rs141947549 |
531 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270187380 CA411702532 |
533 | N>D | No |
ClinGen gnomAD |
|
|
rs1308232596 CA411702553 |
534 | H>R | No |
ClinGen gnomAD |
|
|
CA411702603 rs1308925406 |
536 | F>Y | No |
ClinGen gnomAD |
|
|
CA324568207 rs906393626 |
538 | V>L | No |
ClinGen Ensembl |
|
|
rs1386749468 CA411702681 |
539 | G>S | No |
ClinGen TOPMed |
|
|
rs1407389129 CA411702728 |
539 | G>V | No |
ClinGen gnomAD |
|
|
rs1305680284 CA411702743 |
540 | M>T | No |
ClinGen gnomAD |
|
|
rs765130913 CA10254645 |
541 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA411702890 rs780186631 |
545 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780186631 CA10254648 |
545 | V>M | Variant assessed as Somatic; 4.667e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1484168447 CA411703025 |
550 | P>H | No |
ClinGen gnomAD |
|
|
CA411703055 rs1194085901 |
551 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1601536622 CA411703162 |
555 | V>G | No |
ClinGen Ensembl |
|
|
rs897174803 CA324568244 |
555 | V>M | No |
ClinGen TOPMed |
|
|
rs1601536633 CA411703196 |
556 | A>V | No |
ClinGen Ensembl |
|
|
rs781625142 CA10254651 COSM445045 |
557 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1601536679 CA411703270 |
558 | V>G | No |
ClinGen Ensembl |
|
|
rs770073704 CA10254653 |
558 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs200150887 CA324568251 |
559 | K>T | No |
ClinGen Ensembl |
|
|
CA10254654 rs778100819 |
560 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs749666274 CA10254655 |
560 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1601536734 CA411703359 |
561 | V>G | No |
ClinGen Ensembl |
|
|
CA324568278 rs894778525 |
562 | V>A | No |
ClinGen Ensembl |
|
|
CA10254657 rs146290584 |
562 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411703432 rs1299049790 |
563 | H>R | No |
ClinGen gnomAD |
|
|
rs1370183015 CA411703459 |
564 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760184181 CA10254658 |
564 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370183015 CA411703466 |
564 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA411703518 rs1339888860 |
566 | L>F | No |
ClinGen gnomAD |
|
|
CA10254661 rs761838936 |
567 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211745791 CA411703756 |
572 | G>S | No |
ClinGen gnomAD |
|
|
rs1421697181 CA411703921 |
575 | S>R | No |
ClinGen gnomAD |
|
|
CA10254664 rs762696237 |
576 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA411703978 rs1189851016 |
578 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411704040 rs1601536904 |
580 | W>G | No |
ClinGen Ensembl |
|
|
CA10254667 rs754988896 |
583 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139499248 CA10254669 |
583 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 583 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756593533 CA10254670 |
584 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1408479896 CA411704243 |
586 | P>L | No |
ClinGen TOPMed |
|
|
rs1458947793 CA411704258 |
587 | D>V | No |
ClinGen gnomAD |
|
|
rs1601537028 CA411704317 |
589 | Y>S | No |
ClinGen Ensembl |
|
|
CA324568383 rs757589004 |
591 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254673 rs757589004 |
591 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254674 rs779700504 |
592 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411704410 rs1295076591 |
593 | W>C | No |
ClinGen gnomAD |
|
|
CA411704456 rs1400314080 |
595 | E>A | No |
ClinGen TOPMed |
|
|
CA411704464 rs1247013622 |
595 | E>D | No |
ClinGen gnomAD |
|
|
CA10254675 rs746646163 |
595 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA411704493 rs1271344228 |
597 | T>S | No |
ClinGen gnomAD |
|
|
rs768491090 CA10254676 |
598 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411704546 rs1485072166 |
599 | Y>* | No |
ClinGen gnomAD |
|
|
CA411704643 rs1162438438 |
603 | P>L | No |
ClinGen gnomAD |
|
|
CA411704652 rs1156884860 |
604 | P>S | No |
ClinGen TOPMed |
|
|
CA411704674 rs1457359838 |
606 | A>T | No |
ClinGen gnomAD |
|
|
CA10254679 rs142256697 |
607 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10254680 rs142256697 |
607 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429709083 CA411704711 |
607 | A>V | No |
ClinGen gnomAD |
|
|
rs750785556 CA411704970 |
608 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10254716 rs758863629 |
609 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411704987 rs758863629 |
609 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353412789 CA411704994 |
610 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10254717 rs780943418 |
611 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254718 rs141881945 |
612 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141881945 CA411705034 |
612 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411705067 rs1256771011 |
614 | K>R | No |
ClinGen Ensembl |
|
|
rs1338358821 CA411705093 |
615 | A>V | No |
ClinGen gnomAD |
|
|
CA324569232 rs893348529 |
617 | E>Q | No |
ClinGen TOPMed |
|
|
CA411705203 rs1205527365 |
620 | K>E | No |
ClinGen TOPMed |
|
|
rs1011623032 CA324569241 |
622 | K>R | No |
ClinGen Ensembl |
|
|
CA411705315 rs1251171816 CA411705312 |
623 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1332103223 CA411705304 |
623 | K>R | No |
ClinGen gnomAD |
|
|
rs770746320 CA10254723 |
625 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466057266 CA411705395 CA411705392 |
627 | G>R | No |
ClinGen gnomAD |
|
|
rs1190787796 CA411705435 |
628 | K>R | No |
ClinGen gnomAD |
|
|
rs778855154 CA10254724 |
629 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA411705454 rs1475212994 |
629 | K>R | No |
ClinGen gnomAD |
|
|
rs909506955 CA324570525 |
632 | R>G | No |
ClinGen TOPMed |
|
|
CA10254738 rs755706518 |
633 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA324570547 rs1041300183 |
634 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753249849 CA10254740 COSM265344 |
634 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411706480 rs1041300183 |
634 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1384669086 CA411706516 |
637 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs778768905 CA10254742 |
638 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs143799837 CA10254743 |
638 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411706531 rs143799837 |
638 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10254746 rs151099443 COSM3939660 |
639 | R>* | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA10254745 rs151099443 |
639 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200806912 CA10254747 |
639 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1473290041 CA411706553 |
641 | L>F | No |
ClinGen TOPMed |
|
|
CA10254751 rs565620653 |
643 | Q>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA411706580 rs1191553843 |
643 | Q>L | No |
ClinGen TOPMed |
|
|
CA10254752 rs773788327 |
644 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774830983 CA10254755 |
646 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA411706616 rs1210518309 |
646 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs371211871 CA10254757 |
648 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10254756 rs371211871 |
648 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753546507 CA10254758 |
649 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254761 rs112599077 |
652 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1017098166 CA324570640 |
653 | D>N | No |
ClinGen TOPMed |
|
|
rs746740003 CA10254764 |
654 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780008490 CA10254763 |
654 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs961844791 CA324570654 |
656 | G>C | No |
ClinGen Ensembl |
|
|
rs1308324437 CA411706840 |
657 | A>T | No |
ClinGen gnomAD |
|
|
CA10254766 rs781212496 |
660 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs373887902 CA10254768 |
661 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373887902 CA10254769 |
661 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10254771 COSM1034595 rs548298301 |
662 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10254773 rs375958772 |
664 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324570681 rs556781704 |
664 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556781704 CA10254772 |
664 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411707008 rs1481636286 |
665 | V>I | No |
ClinGen gnomAD |
|
|
CA10254774 rs767931586 |
667 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM240451 rs764919877 CA10254777 |
668 | E>K | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10254778 rs749905682 |
669 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA324571227 rs545989836 |
670 | I>L | No |
ClinGen Ensembl |
|
|
CA411707508 rs1238807973 |
671 | A>G | No |
ClinGen gnomAD |
|
|
CA324571236 rs370322931 |
671 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA10254826 rs763980230 |
672 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs954517657 CA324571241 COSM1416505 |
673 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs150229614 CA10254828 |
673 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411707596 rs1555922213 |
677 | E>K | No |
ClinGen Ensembl |
|
|
rs750476746 CA10254830 |
678 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs138870411 CA10254832 |
680 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377610001 CA411707675 |
681 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377610001 CA324571280 |
681 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375467908 CA10254833 |
682 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411707690 rs1174030494 |
682 | A>S | No |
ClinGen gnomAD |
|
|
CA10254835 rs368752921 |
683 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10254834 rs755544426 |
683 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324571307 rs930238812 |
684 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411707726 rs930238812 |
684 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10254840 rs576076981 |
685 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201362426 CA10254839 |
685 | D>N | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1460192892 CA411707761 |
686 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1399268982 CA411707774 |
686 | K>R | No |
ClinGen TOPMed |
|
|
CA411707785 rs1350577152 |
687 | A>P | No |
ClinGen gnomAD |
|
|
rs1231599545 CA411707804 |
688 | S>P | No |
ClinGen gnomAD |
|
|
rs1169253227 CA411707827 |
689 | S>G | No |
ClinGen gnomAD |
|
|
rs771488641 CA10254841 |
691 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1601547543 CA411707926 |
694 | V>D | No |
ClinGen Ensembl |
|
|
CA10254843 rs761057315 |
695 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA411707941 rs776539879 |
696 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10254845 rs776539879 |
696 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765453159 CA10254847 |
697 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411707999 rs1237933145 |
699 | I>F | No |
ClinGen TOPMed |
|
|
CA324571363 rs764729960 |
699 | I>M | No |
ClinGen TOPMed |
|
|
rs1424748094 CA411708018 |
700 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs200959460 CA10254851 |
703 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10254853 rs755450852 |
705 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1416506 CA411708130 rs1327223216 |
705 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs199902657 CA324571387 |
706 | D>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
No associated diseases with Q969R5
No regional properties for Q969R5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q969R5 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
| zinc ion binding | Binding to a zinc ion (Zn). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UQR0 | SCML2 | Sex comb on midleg-like protein 2 | Homo sapiens (Human) | PR |
| Q96GD3 | SCMH1 | Polycomb protein SCMH1 | Homo sapiens (Human) | PR |
| Q9Y468 | L3MBTL1 | Lethal(3)malignant brain tumor-like protein 1 | Homo sapiens (Human) | PR |
| Q96JM7 | L3MBTL3 | Lethal(3)malignant brain tumor-like protein 3 | Homo sapiens (Human) | PR |
| Q9UHJ3 | SFMBT1 | Scm-like with four MBT domains protein 1 | Homo sapiens (Human) | PR |
| Q8BLB7 | L3mbtl3 | Lethal(3)malignant brain tumor-like protein 3 | Mus musculus (Mouse) | PR |
| A2A5N8 | L3mbtl1 | Lethal(3)malignant brain tumor-like protein 1 | Mus musculus (Mouse) | PR |
| Q9JMD1 | Sfmbt1 | Scm-like with four MBT domains protein 1 | Mus musculus (Mouse) | PR |
| Q9JMD2 | Sfmbt1 | Scm-like with four MBT domains protein 1 | Rattus norvegicus (Rat) | PR |
| B2D6M2 | lin-61 | Protein lin-61 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKPRSIEET | PSSEPMEEEE | DDDLELFGGY | DSFRSYNSSV | GSESSSYLEE | SSEAENEDRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGELPTSPLH | LLSPGTPRSL | DGSGSEPAVC | EMCGIVGTRE | AFFSKTKRFC | SVSCSRSYSS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NSKKASILAR | LQGKPPTKKA | KVLHKAAWSA | KIGAFLHSQG | TGQLADGTPT | GQDALVLGFD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WGKFLKDHSY | KAAPVSCFKH | VPLYDQWEDV | MKGMKVEVLN | SDAVLPSRVY | WIASVIQTAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YRVLLRYEGF | ENDASHDFWC | NLGTVDVHPI | GWCAINSKIL | VPPRTIHAKF | TDWKGYLMKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LVGSRTLPVD | FHIKMVESMK | YPFRQGMRLE | VVDKSQVSRT | RMAVVDTVIG | GRLRLLYEDG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DSDDDFWCHM | WSPLIHPVGW | SRRVGHGIKM | SERRSDMAHH | PTFRKIYCDA | VPYLFKKVRA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VYTEGGWFEE | GMKLEAIDPL | NLGNICVATV | CKVLLDGYLM | ICVDGGPSTD | GLDWFCYHAS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SHAIFPATFC | QKNDIELTPP | KGYEAQTFNW | ENYLEKTKSK | AAPSRLFNMD | CPNHGFKVGM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KLEAVDLMEP | RLICVATVKR | VVHRLLSIHF | DGWDSEYDQW | VDCESPDIYP | VGWCELTGYQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LQPPVAAEPA | TPLKAKEATK | KKKKQFGKKR | KRIPPTKTRP | LRQGSKKPLL | EDDPQGARKI |
| 670 | 680 | 690 | 700 | ||
| SSEPVPGEII | AVRVKEEHLD | VASPDKASSP | ELPVSVENIK | QETDD |