Q71RC2
Gene name |
LARP4 (PP13296) |
Protein name |
La-related protein 4 |
Names |
La ribonucleoprotein domain family member 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:113251 |
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 Q71RC2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2CQK | NMR | - | A | 113-200 | PDB |
| 3PKN | X-ray | 180 A | B | 13-26 | PDB |
| 6I9B | NMR | - | A | 111-287 | PDB |
| AF-Q71RC2-F1 | Predicted | AlphaFoldDB |
499 variants for Q71RC2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1469241927 CA384816312 |
2 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 3 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377730344 CA6563497 |
4 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772183477 CA6563496 |
4 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6563498 rs201028627 |
5 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384816331 rs1197583403 |
6 | E>K | No |
ClinGen gnomAD |
|
|
CA6563524 rs146142861 |
9 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146142861 CA236772636 |
9 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA236772654 rs948280281 |
11 | K>* | No |
ClinGen Ensembl |
|
|
rs767218428 TCGA novel CA6563526 |
11 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs761470805 CA6563525 |
11 | K>T | No |
ClinGen ExAC |
|
|
rs1229510474 CA384816965 |
14 | G>S | No |
ClinGen TOPMed |
|
|
rs1352962187 CA384816972 |
15 | L>V | No |
ClinGen TOPMed |
|
|
CA384816991 rs1296207965 |
17 | P>H | No |
ClinGen gnomAD |
|
|
CA6563528 rs760222423 |
20 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA384817013 rs1253930124 |
21 | V>I | No |
ClinGen gnomAD |
|
|
rs1043969698 CA236772725 |
26 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384817072 rs1209151931 |
29 | N>S | No |
ClinGen gnomAD |
|
|
rs1249738250 CA384817080 |
30 | T>I | No |
ClinGen gnomAD |
|
|
rs199674991 CA236772737 |
31 | D>H | No |
ClinGen Ensembl |
|
|
CA384817092 rs1463498908 |
32 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384817102 rs753837725 |
34 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754689963 CA6563531 |
34 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6563530 rs753837725 |
34 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751771966 CA6563533 |
35 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA384817120 rs1377318584 |
37 | H>R | No |
ClinGen gnomAD |
|
|
rs935475317 CA236772785 |
38 | G>R | No |
ClinGen Ensembl |
|
|
rs757537792 CA6563534 |
41 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236772793 rs370676327 |
42 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs1322986534 COSM468491 CA384817156 |
43 | W>R | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA384817169 rs1386979214 |
44 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1386979214 CA384817168 |
44 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745911828 CA6563536 |
46 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6563535 rs781628490 |
46 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384817189 rs1273960935 |
47 | A>G | No |
ClinGen Ensembl |
|
|
rs1367663563 CA384817185 |
47 | A>T | No |
ClinGen gnomAD |
|
|
rs756263092 CA6563537 |
48 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6563538 rs140187240 |
49 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6563539 rs749830137 |
49 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749830137 CA384817199 |
49 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368233624 CA6563540 |
51 | G>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6563541 rs774688114 |
52 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6563542 rs748581555 |
53 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236772869 rs371940413 |
53 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200311098 CA6563543 |
56 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779439702 CA6563561 |
57 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1309427853 CA384817388 |
61 | S>L | No |
ClinGen gnomAD |
|
|
CA6563564 rs772813238 |
62 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384817405 rs1441141360 |
63 | D>H | No |
ClinGen gnomAD |
|
|
CA6563565 rs746679880 |
63 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs541317273 CA6563568 |
64 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA236774077 rs541317273 |
64 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541317273 CA6563567 |
64 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1476634625 CA384817517 |
70 | V>G | No |
ClinGen TOPMed |
|
|
CA6563569 rs769822581 |
71 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563571 rs775618096 |
75 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6563572 rs762786792 |
76 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762786792 CA6563573 |
76 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750605740 CA6563574 |
78 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs375805371 CA6563575 |
79 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375805371 CA6563576 |
79 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563579 rs779344035 |
80 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1181739914 CA384817656 |
81 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753238473 CA6563580 |
82 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758699442 CA6563581 |
83 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346805584 CA384817708 |
85 | I>T | No |
ClinGen TOPMed |
|
|
CA384817758 rs1169956192 |
89 | T>A | No |
ClinGen gnomAD |
|
|
rs1409009576 CA384817783 |
91 | G>R | No |
ClinGen gnomAD |
|
|
COSM358699 CA6563584 rs747392424 CA6563583 |
92 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1360658488 CA384817798 |
92 | M>V | No |
ClinGen gnomAD |
|
|
rs1411987795 CA384817832 |
95 | G>R | No |
ClinGen TOPMed |
|
|
CA6563585 rs780745502 |
100 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA384817870 rs780745502 |
100 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs745357845 CA6563586 |
101 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA384817899 rs1338896464 |
102 | Q>E | No |
ClinGen gnomAD |
|
|
rs558066547 CA6563587 |
105 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384817964 rs1209862636 |
106 | V>G | No |
ClinGen gnomAD |
|
|
CA384817966 rs1249132771 |
107 | S>A | No |
ClinGen gnomAD |
|
|
CA6563611 rs774205855 |
110 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA384818197 rs1260578384 |
111 | N>S | No |
ClinGen gnomAD |
|
|
CA6563612 rs747927894 |
114 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212210601 CA384818222 |
115 | S>F | No |
ClinGen gnomAD |
|
|
rs142269189 CA6563613 |
116 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6563615 rs759770835 |
116 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs142269189 CA6563614 |
116 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384818231 rs1252130456 |
117 | E>G | No |
ClinGen gnomAD |
|
|
CA384818239 rs1473413238 |
118 | D>V | No |
ClinGen gnomAD |
|
|
CA6563620 rs752025559 |
122 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757597872 CA6563621 |
123 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA384818293 rs1424126982 |
126 | Q>K | No |
ClinGen gnomAD |
|
|
CA6563624 rs370261750 CA384818312 |
128 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384818317 rs1358507376 |
129 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384818344 rs1408322438 |
133 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384818345 rs1306719325 |
133 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 134 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6563645 rs774854357 COSM416214 |
136 | L>F | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA236780810 rs970894460 |
138 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 141 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384818661 rs1309862165 |
142 | L>F | No |
ClinGen TOPMed |
|
|
CA384818668 rs1224768549 |
143 | I>M | No |
ClinGen gnomAD |
|
|
rs977935863 CA236780817 |
143 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6563646 rs762238929 |
145 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA384818699 rs1483433932 |
148 | S>G | No |
ClinGen gnomAD |
|
|
rs750812094 CA6563649 |
150 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189213980 CA384818737 |
153 | P>T | No |
ClinGen gnomAD |
|
|
CA384818744 rs1392065755 |
154 | I>V | No |
ClinGen gnomAD |
|
|
CA384818752 rs1175446913 |
155 | W>G | No |
ClinGen TOPMed |
|
|
CA6563652 rs753577735 |
155 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA384818759 rs1378429954 |
156 | T>A | No |
ClinGen gnomAD |
|
|
CA384818785 rs1467850082 COSM1639148 |
160 | M>V | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 166 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384818846 rs754471636 COSM548703 |
168 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754471636 CA6563653 |
168 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA384818854 rs1457522009 |
169 | D>G | No |
ClinGen TOPMed |
|
|
rs778303791 CA6563654 |
170 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA236780887 CA384818869 rs989389169 |
171 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1366683136 CA384818888 |
175 | E>K | No |
ClinGen gnomAD |
|
|
rs1418394879 CA384818896 |
176 | V>M | No |
ClinGen TOPMed |
|
|
CA384818915 rs1380061657 |
178 | R>S | No |
ClinGen gnomAD |
|
|
CA384819153 rs1266078613 |
181 | P>A | No |
ClinGen gnomAD |
|
|
rs78631494 CA6563680 |
182 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6563681 rs78631494 |
182 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6563682 rs780977801 |
187 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6563685 rs768753799 |
189 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768753799 CA6563684 |
189 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236783449 rs200185443 |
192 | V>A | No |
ClinGen TOPMed |
|
|
rs375971492 CA6563686 |
196 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418998899 CA384819315 |
198 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772226829 CA6563687 |
200 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563689 rs773788540 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6563690 rs761278563 |
209 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6563692 rs201686100 |
212 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384820060 rs1183558422 |
216 | K>E | No |
ClinGen gnomAD |
|
|
CA236786142 rs777330525 |
217 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563714 rs777330525 |
217 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384820080 rs1169248383 |
219 | F>L | No |
ClinGen gnomAD |
|
|
rs1254385705 CA384820097 |
221 | S>N | No |
ClinGen TOPMed |
|
|
CA6563715 rs369661355 CA384820116 |
223 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384820126 rs1408107893 |
225 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1047085836 CA236786163 |
227 | V>M | No |
ClinGen TOPMed |
|
|
CA384820151 rs1336052490 |
229 | S>R | No |
ClinGen gnomAD |
|
|
CA236786169 rs994204824 |
232 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA236786174 rs888419312 |
235 | N>S | No |
ClinGen TOPMed |
|
|
CA6563721 rs761350873 |
237 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384820219 rs1328467123 |
238 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 242 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273734374 CA384820283 |
246 | T>I | No |
ClinGen TOPMed |
|
|
rs1008258563 CA236787076 |
255 | L>F | No |
ClinGen TOPMed |
|
|
CA384820397 rs1341161531 |
255 | L>V | No |
ClinGen gnomAD |
|
|
CA236787100 rs375893849 |
256 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1039294577 CA236787101 |
258 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540112594 CA236787110 |
263 | Q>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 264 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774037968 CA6563741 |
267 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384821407 rs1399019945 |
271 | I>K | No |
ClinGen gnomAD |
|
|
CA384821406 rs1469344529 |
271 | I>V | No |
ClinGen TOPMed |
|
|
CA384821426 rs1390056703 |
274 | I>V | No |
ClinGen gnomAD |
|
|
CA384821436 rs1328691507 |
275 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384821456 rs1255427393 |
278 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004285132 CA236796800 |
281 | N>D | No |
ClinGen TOPMed |
|
|
CA384821483 rs1341604657 |
282 | G>S | No |
ClinGen gnomAD |
|
|
CA6563760 rs771680507 |
290 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384821550 rs1244724910 |
291 | Y>C | No |
ClinGen gnomAD |
|
|
CA236796803 rs957659476 |
293 | H>Q | No |
ClinGen Ensembl |
|
|
CA6563762 rs760146452 |
294 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563761 rs370399330 |
294 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236796827 rs988930174 |
295 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6563763 rs770883830 |
300 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770883830 CA6563764 |
300 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563765 rs759368478 |
302 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563766 rs765125087 |
303 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375004043 CA384821668 |
309 | P>T | No |
ClinGen gnomAD |
|
|
CA384821678 rs1407819020 |
310 | V>A | No |
ClinGen TOPMed |
|
|
COSM3739713 CA6563767 rs751771927 |
311 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1361739596 CA384821688 |
312 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403436660 CA384821707 |
314 | H>Q | No |
ClinGen gnomAD |
|
|
CA6563768 rs762110345 |
315 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs762110345 CA384821712 |
315 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1379892195 CA384821733 |
318 | S>A | No |
ClinGen gnomAD |
|
|
CA6563770 rs200920592 |
318 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563771 rs201761805 |
319 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs971599267 CA236796911 |
320 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs981708446 CA236796919 |
321 | S>N | No |
ClinGen TOPMed |
|
|
CA384821760 rs1250523374 |
322 | I>T | No |
ClinGen gnomAD |
|
|
CA384821779 rs1387608336 |
325 | Q>R | No |
ClinGen gnomAD |
|
|
rs1303705101 CA384821819 |
331 | P>A | No |
ClinGen gnomAD |
|
|
rs375407142 CA6563773 |
332 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563775 rs201409653 |
333 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384821836 rs1272552209 |
334 | Y>D | No |
ClinGen TOPMed |
|
|
CA384821851 rs1230797654 |
336 | E>Q | No |
ClinGen gnomAD |
|
|
CA6563777 rs371625011 |
337 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771728085 CA6563778 |
338 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766384339 CA6563791 |
340 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384821902 rs1409401460 |
342 | F>L | No |
ClinGen TOPMed |
|
|
rs1481589594 CA384821904 |
343 | P>T | No |
ClinGen gnomAD |
|
|
CA6563793 rs755473780 |
344 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs753976983 CA6563792 |
344 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368192050 CA6563794 |
346 | S>T | No |
ClinGen ESP ExAC |
|
|
rs74623055 CA236797595 |
348 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563795 rs74623055 |
348 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6563796 rs17124706 VAR_055936 |
351 | F>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777446576 CA6563797 |
353 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454913593 CA384822006 |
354 | P>L | No |
ClinGen TOPMed |
|
|
rs756730225 CA6563799 |
355 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs369863425 CA236797600 |
356 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA236797603 rs866906397 |
356 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 359 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372889084 CA6563801 |
360 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565683772 CA384822070 |
360 | N>S | No |
ClinGen Ensembl |
|
|
CA384822081 rs1593277748 |
361 | A>G | No |
ClinGen Ensembl |
|
|
rs868265535 CA236797612 |
363 | A>S | No |
ClinGen Ensembl |
|
|
CA384822109 rs1440979781 |
364 | M>T | No |
ClinGen TOPMed |
|
|
CA6563803 rs775616209 |
364 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749060996 CA384822162 |
368 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563805 rs749060996 |
368 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563806 rs768367207 |
369 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs369005701 CA6563807 |
370 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372731812 CA236797643 |
373 | N>D | No |
ClinGen ESP |
|
| rs1179425728 | 373 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384822232 rs1406435935 |
374 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs567199331 CA236797645 |
374 | R>H | No |
ClinGen Ensembl |
|
|
CA236802682 rs989019765 |
377 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1480591174 CA384822626 |
379 | F>L | No |
ClinGen gnomAD |
|
|
rs780099369 CA6563822 |
380 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768697912 CA6563824 |
382 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs768697912 CA384822639 |
382 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA384822649 rs1221674574 |
383 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1410239744 CA384822650 |
384 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384822677 rs1352583954 |
387 | H>Q | No |
ClinGen gnomAD |
|
|
rs1292799616 CA384822681 |
388 | S>L | No |
ClinGen TOPMed |
|
|
rs748018488 CA6563826 |
388 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs371027233 CA6563827 |
389 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384822683 rs371027233 |
389 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384822688 rs1328225707 |
390 | E>K | No |
ClinGen TOPMed |
|
|
CA384822699 rs1385027473 |
391 | G>D | No |
ClinGen gnomAD |
|
|
rs759574517 CA236802733 |
392 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs759574517 CA6563829 |
392 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs776863677 CA6563828 |
392 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563832 rs763351976 |
395 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs376206501 CA6563833 |
396 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384822759 rs1204812849 |
397 | D>A | No |
ClinGen gnomAD |
|
|
CA384822775 rs1462221049 |
399 | Q>K | No |
ClinGen gnomAD |
|
|
CA384822782 rs1181198826 |
399 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377340378 CA6563836 |
403 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563838 rs755619174 |
406 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563839 rs370323231 |
408 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs530201797 COSM371026 CA6563841 |
409 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA236802763 rs549517796 |
409 | P>L | No |
ClinGen Ensembl |
|
|
rs1468223852 CA384822917 |
410 | A>T | No |
ClinGen gnomAD |
|
|
rs375041452 CA6563843 |
411 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367988641 CA6563845 |
412 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563844 rs771888389 |
412 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563846 rs547081047 |
413 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1289830461 CA384822968 |
414 | N>K | No |
ClinGen TOPMed |
|
|
CA384822977 rs1340251091 |
415 | P>L | No |
ClinGen gnomAD |
|
|
rs1196829830 CA384822973 |
415 | P>T | No |
ClinGen TOPMed |
|
|
CA236802784 rs1042081836 |
420 | H>Q | No |
ClinGen Ensembl |
|
|
CA236802795 rs567741000 |
422 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs566991372 CA6563850 |
422 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6563851 rs567741000 |
422 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA384823096 rs1167075221 |
426 | L>F | No |
ClinGen gnomAD |
|
|
rs1217439495 CA384823136 |
429 | E>K | No |
ClinGen gnomAD |
|
|
CA384823153 rs1240002563 |
430 | T>N | No |
ClinGen gnomAD |
|
|
CA384823165 rs1305401614 |
431 | S>C | No |
ClinGen TOPMed |
|
|
rs767998240 CA6563853 |
437 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201082833 CA384823249 |
438 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201082833 CA6563854 |
438 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1479399817 CA384823254 |
439 | G>R | No |
ClinGen gnomAD |
|
|
rs1408750702 CA384823283 |
441 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 441 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6563858 rs754539713 |
443 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA384823325 rs1393781050 |
445 | R>K | No |
ClinGen TOPMed |
|
|
rs1593371706 CA384823354 |
447 | T>S | No |
ClinGen Ensembl |
|
|
CA384823374 rs1209037766 |
450 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1251055740 CA384823382 |
451 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs372217208 CA6563892 |
452 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6563891 rs372217208 |
452 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563893 rs748279624 |
452 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1445347191 CA384823395 |
454 | R>* | No |
ClinGen gnomAD |
|
|
rs375470659 CA384823396 |
454 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375470659 CA236803675 |
454 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6563895 rs772685651 COSM940363 |
455 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773880201 CA6563896 |
456 | E>D | No |
ClinGen ExAC |
|
|
rs771333693 CA6563898 |
459 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384823434 rs1408693701 |
460 | I>T | No |
ClinGen gnomAD |
|
|
CA236803721 rs1043750286 |
460 | I>V | No |
ClinGen gnomAD |
|
|
rs1236024936 CA384823455 |
462 | R>G | No |
ClinGen TOPMed |
|
|
rs1193379691 CA384823462 |
463 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA236806152 rs201492759 |
464 | H>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA384823476 rs1481692284 |
465 | P>A | No |
ClinGen gnomAD |
|
|
rs1174601470 CA384823479 |
465 | P>R | No |
ClinGen gnomAD |
|
|
CA384823484 rs1376290504 |
466 | S>L | No |
ClinGen gnomAD |
|
|
rs774214753 CA6563926 |
467 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996091753 CA236806162 |
468 | A>G | No |
ClinGen TOPMed |
|
|
rs1289025094 CA384823508 |
470 | S>* | No |
ClinGen gnomAD |
|
|
CA6563928 rs375232209 |
472 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM295393 CA6563929 rs749476328 |
472 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1278370858 CA384823534 |
474 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1241050528 CA384823537 |
475 | P>S | No |
ClinGen TOPMed |
|
|
CA384823565 rs1379165765 |
479 | L>I | No |
ClinGen TOPMed |
|
|
rs758496893 CA6563933 |
481 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs758496893 CA384823583 |
481 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 483 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6563934 rs201955736 |
486 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751661033 CA6563935 |
488 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384823627 rs751661033 |
488 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262629400 CA384823630 |
489 | G>R | No |
ClinGen gnomAD |
|
|
rs757755491 CA384823655 |
493 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563937 rs781594961 |
494 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA384823664 rs1216222883 |
494 | M>V | No |
ClinGen gnomAD |
|
|
CA384823681 rs1394462618 |
496 | G>V | No |
ClinGen TOPMed |
|
|
rs143065665 CA6563939 |
498 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748951248 CA6563941 |
499 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6563943 rs371444659 |
500 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563945 rs755045538 |
502 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17124715 CA384823715 |
502 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_055937 CA6563946 rs17124715 |
502 | N>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs755045538 CA6563944 |
502 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384823743 rs1365924799 |
506 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6563947 rs374829101 |
507 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384823784 rs1291656032 |
512 | Y>C | No |
ClinGen gnomAD |
|
|
CA384823785 rs1291656032 |
512 | Y>F | No |
ClinGen gnomAD |
|
|
rs766292951 CA6563948 |
514 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366803023 CA384823798 |
514 | E>K | No |
ClinGen gnomAD |
|
|
rs959809603 CA236809769 |
516 | D>V | No |
ClinGen TOPMed |
|
|
rs988601605 CA236809772 |
518 | E>G | No |
ClinGen TOPMed |
|
|
CA384824514 rs1355402962 |
519 | E>A | No |
ClinGen TOPMed |
|
|
rs200518612 CA6563959 |
522 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1238449141 CA384824542 |
523 | S>I | No |
ClinGen TOPMed |
|
|
CA384824571 rs1316629085 |
527 | P>L | No |
ClinGen TOPMed |
|
|
CA384824572 rs1314103291 |
528 | A>S | No |
ClinGen TOPMed |
|
|
CA236809801 rs751795234 |
530 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 532 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747655030 CA6563962 |
535 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs912990449 CA236809820 |
536 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs968507524 CA236809825 |
537 | A>T | No |
ClinGen TOPMed |
|
|
rs1412750012 CA384824641 |
538 | Q>P | No |
ClinGen gnomAD |
|
|
rs771488452 CA6563963 |
539 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172660344 CA384824655 |
540 | L>F | No |
ClinGen gnomAD |
|
|
CA384824658 rs1398007450 |
540 | L>R | No |
ClinGen gnomAD |
|
|
CA236809832 rs1063078 |
541 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6563964 rs78511636 |
542 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361014635 CA384824679 |
543 | S>N | No |
ClinGen gnomAD |
|
|
CA6563965 rs746932732 |
544 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs370779483 CA6563966 |
544 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374440389 CA6563967 |
545 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6563968 rs759458238 |
547 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764358562 CA6563969 |
552 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1139998 CA236809871 |
552 | L>P | No |
ClinGen Ensembl |
|
|
CA384824742 rs1224708842 |
554 | A>T | No |
ClinGen gnomAD |
|
|
CA384824789 rs1565769829 |
559 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1157107432 CA384824807 |
561 | E>G | No |
ClinGen gnomAD |
|
|
rs1196223143 CA384824819 |
563 | D>N | No |
ClinGen TOPMed |
|
|
rs753170552 CA6563997 |
565 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757953216 CA6563998 |
565 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1565770002 CA384824851 |
567 | D>E | No |
ClinGen Ensembl |
|
|
CA384824857 rs1326014496 |
568 | S>C | No |
ClinGen gnomAD |
|
|
CA384824861 rs1436438270 |
569 | S>A | No |
ClinGen gnomAD |
|
|
rs376154925 CA6563999 |
569 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 569 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751060354 CA6564000 |
571 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370237938 CA384824890 |
573 | D>V | No |
ClinGen TOPMed |
|
|
rs1440898713 CA384824909 |
576 | N>S | No |
ClinGen TOPMed |
|
|
CA6564001 rs756863416 |
578 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1283448206 CA384824930 |
579 | T>I | No |
ClinGen gnomAD |
|
|
CA6564004 rs769831090 |
583 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449764438 CA384824961 |
584 | P>L | No |
ClinGen gnomAD |
|
|
rs1198138710 CA384824969 |
586 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6564005 rs779711403 |
587 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6564006 rs376999643 |
588 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA236810170 rs374130369 |
589 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA384825001 rs1425607216 |
591 | S>A | No |
ClinGen gnomAD |
|
|
COSM3416916 rs370890092 CA236810176 |
591 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA384825013 rs1405235197 |
593 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6564008 rs773444730 |
595 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6564009 rs760680436 |
597 | S>T | No |
ClinGen ExAC |
|
|
rs200379125 CA6564010 |
599 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1400304178 CA384825060 |
600 | N>K | No |
ClinGen gnomAD |
|
|
CA6564012 rs771011602 |
601 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1306532071 CA384825071 |
602 | N>Y | No |
ClinGen gnomAD |
|
|
rs776748586 CA6564013 |
603 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384825087 rs1245117504 |
604 | N>S | No |
ClinGen gnomAD |
|
|
rs759954171 CA6564014 |
605 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6564015 rs202224219 |
607 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564016 rs752978169 |
609 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236810193 rs1028742675 |
609 | V>M | No |
ClinGen TOPMed |
|
|
CA6564017 rs763394191 |
610 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384825119 rs1361843724 |
610 | A>V | No |
ClinGen gnomAD |
|
|
rs1459080848 CA384825123 |
611 | L>V | No |
ClinGen gnomAD |
|
|
CA384825128 rs1398482706 |
612 | Q>* | No |
ClinGen gnomAD |
|
|
rs986718590 CA236810840 |
615 | R>Q | No |
ClinGen TOPMed |
|
|
CA6564059 rs757446558 |
624 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398024321 CA384825509 |
626 | P>L | No |
ClinGen gnomAD |
|
|
CA384825517 rs1312787565 |
628 | K>E | No |
ClinGen gnomAD |
|
|
COSM1606234 CA384825536 rs1593515867 |
630 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA236810874 rs1017834437 |
632 | S>L | No |
ClinGen TOPMed |
|
|
CA384825545 rs1254410635 |
632 | S>P | No |
ClinGen gnomAD |
|
|
CA6564063 rs372751783 |
633 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769917313 CA6564062 |
633 | V>F | No |
ClinGen ExAC |
|
|
rs1217690574 CA384825557 |
634 | L>P | No |
ClinGen gnomAD |
|
|
CA6564064 rs749791498 |
635 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290842781 CA384825561 |
635 | V>L | No |
ClinGen gnomAD |
|
|
rs377181777 CA6564067 |
639 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774826971 CA6564066 |
639 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6564068 rs767231125 |
640 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1200332176 CA384825596 |
641 | L>P | No |
ClinGen gnomAD |
|
|
CA236810895 rs556835847 |
641 | L>V | No |
ClinGen Ensembl |
|
|
rs370588459 CA6564069 |
642 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6564071 rs765899403 |
644 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6564070 rs760045934 |
644 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6564072 rs753354204 |
645 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs765205260 CA6564075 |
647 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564074 rs765205260 |
647 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564076 rs758217567 |
649 | T>N | No |
ClinGen ExAC |
|
|
CA6564077 rs781320632 |
652 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746119768 CA6564078 |
653 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1299256124 CA384825672 |
654 | N>D | No |
ClinGen gnomAD |
|
|
rs756353381 CA6564079 |
654 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384825683 rs1241101259 |
655 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780181827 CA6564080 |
656 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 657 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384825700 rs749369876 |
658 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564081 rs749369876 |
658 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200404338 CA236810944 |
658 | E>V | No |
ClinGen Ensembl |
|
|
CA6564083 rs775022827 |
661 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA384825742 rs374242008 |
661 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3667169 CA6564082 rs374242008 |
661 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1190000870 CA384825772 |
663 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748484357 CA6564084 |
663 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748484357 CA384825769 |
663 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 664 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6564085 rs772569395 |
664 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178803154 CA384825793 |
665 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 666 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381764513 CA384825833 |
668 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA384825867 rs1287381421 |
670 | A>G | No |
ClinGen TOPMed |
|
|
CA236810957 rs573470956 |
670 | A>T | No |
ClinGen Ensembl |
|
|
CA6564086 rs773506924 |
671 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158066961 CA384825893 |
672 | A>G | No |
ClinGen gnomAD |
|
|
CA384825884 rs1356577933 |
672 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs760370223 CA6564087 |
673 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1459334779 CA384825905 |
673 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 677 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928975486 CA236810964 |
680 | R>* | No |
ClinGen TOPMed |
|
|
rs553516648 CA6564088 |
680 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6564089 rs776182357 |
682 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776182357 CA384826026 |
682 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs908966750 CA236810975 |
683 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752631432 CA6564092 |
688 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752631432 CA6564093 |
688 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564094 rs763939123 |
689 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564095 rs201243004 |
691 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201243004 CA236810979 |
691 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265382552 CA384826083 |
692 | I>L | No |
ClinGen gnomAD |
|
|
CA384826089 rs1181821962 |
692 | I>M | No |
ClinGen TOPMed |
|
|
rs1458649255 CA384826107 |
695 | Q>* | No |
ClinGen gnomAD |
|
|
CA6564096 rs756332538 |
697 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384826122 rs1259798490 |
697 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1185532330 CA384826128 |
698 | Q>P | No |
ClinGen TOPMed |
|
|
rs201453176 CA6564098 |
699 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6564099 rs753922775 |
700 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6564100 rs755140929 |
701 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384826149 rs1414201049 |
701 | H>Y | No |
ClinGen gnomAD |
|
|
rs779497198 COSM3772645 CA6564101 |
703 | A>G | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA384826162 rs1162533430 |
703 | A>P | No |
ClinGen gnomAD |
|
|
CA6564102 rs779497198 |
703 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564103 rs772773414 |
704 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564104 rs778167144 |
705 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA236811025 rs56037675 |
706 | Q>R | No |
ClinGen Ensembl |
|
|
CA6564105 rs747380198 |
707 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447985139 CA384826188 |
708 | V>M | No |
ClinGen gnomAD |
|
|
CA6564108 COSM3416917 rs776176069 |
710 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs776176069 CA384826200 |
710 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769304230 CA384826202 |
710 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769304230 CA6564109 |
710 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6564110 rs367566217 |
711 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576259847 CA6564112 |
711 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576259847 CA6564111 |
711 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1593519326 CA384826206 |
712 | N>H | No |
ClinGen Ensembl |
|
|
rs371799393 CA384826218 |
713 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA384826214 rs1319175110 |
713 | G>S | No |
ClinGen gnomAD |
|
|
rs371799393 CA236811067 |
713 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1033070930 CA236811071 |
714 | K>E | No |
ClinGen TOPMed |
|
|
CA6564113 rs199611225 |
715 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420329667 CA384826263 |
720 | P>S | No |
ClinGen TOPMed |
|
|
CA384826272 rs1484064833 |
721 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384826275 rs1179899912 |
722 | S>P | No |
ClinGen gnomAD |
|
|
rs755051248 CA6564117 |
725 | K>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q71RC2
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA 3'-UTR binding | Binding to a 3' untranslated region of an mRNA molecule. |
| poly(A) binding | Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| positive regulation of translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| post-transcriptional regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. |
| regulation of cell morphogenesis | Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. |
| translation | The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4G0J3 | LARP7 | La-related protein 7 | Homo sapiens (Human) | PR |
| P05455 | SSB | Lupus La protein | Homo sapiens (Human) | PR |
| Q6PKG0 | LARP1 | La-related protein 1 | Homo sapiens (Human) | PR |
| Q659C4 | LARP1B | La-related protein 1B | Homo sapiens (Human) | PR |
| Q6ZQ58 | Larp1 | La-related protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLFVEQVAS | KGTGLNPNAK | VWQEIAPGNT | DATPVTHGTE | SSWHEIAATS | GAHPEGNAEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SEDICKEYEV | MYSSSCETTR | NTTGIEESTD | GMILGPEDLS | YQIYDVSGES | NSAVSTEDLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ECLKKQLEFC | FSRENLSKDL | YLISQMDSDQ | FIPIWTVANM | EEIKKLTTDP | DLILEVLRSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PMVQVDEKGE | KVRPSHKRCI | VILREIPETT | PIEEVKGLFK | SENCPKVISC | EFAHNSNWYI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TFQSDTDAQQ | AFKYLREEVK | TFQGKPIMAR | IKAINTFFAK | NGYRLMDSSI | YSHPIQTQAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YASPVFMQPV | YNPHQQYSVY | SIVPQSWSPN | PTPYFETPLA | PFPNGSFVNG | FNSPGSYKTN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AAAMNMGRPF | QKNRVKPQFR | SSGGSEHSTE | GSVSLGDGQL | NRYSSRNFPA | ERHNPTVTGH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QEQTYLQKET | STLQVEQNGD | YGRGRRTLFR | GRRRREDDRI | SRPHPSTAES | KAPTPKFDLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ASNFPPLPGS | SSRMPGELVL | ENRMSDVVKG | VYKEKDNEEL | TISCPVPADE | QTECTSAQQL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NMSTSSPCAA | ELTALSTTQQ | EKDLIEDSSV | QKDGLNQTTI | PVSPPSTTKP | SRASTASPCN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NNINAATAVA | LQEPRKLSYA | EVCQKPPKEP | SSVLVQPLRE | LRSNVVSPTK | NEDNGAPENS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VEKPHEKPEA | RASKDYSGFR | GNIIPRGAAG | KIREQRRQFS | HRAIPQGVTR | RNGKEQYVPP |
| RSPK |