Q7RTN6
PR
Gene name |
STRADA (LYK5) |
Protein name |
STE20-related kinase adapter protein alpha |
Names |
STRAD alpha, STE20-related adapter protein, Serologically defined breast cancer antigen NY-BR-96 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:92335 |
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 Q7RTN6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UPK | X-ray | 185 A | B | 420-431 | PDB |
| 2WTK | X-ray | 265 A | B/E | 59-431 | PDB |
| 3GNI | X-ray | 235 A | B | 59-431 | PDB |
| AF-Q7RTN6-F1 | Predicted | AlphaFoldDB |
353 variants for Q7RTN6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001224668 rs1387899682 CA400596265 |
10 | R>* | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002528914 rs377651050 RCV000645403 CA8703558 |
11 | I>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs528919447 RCV001240531 CA8703531 |
13 | R>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs528919447 RCV001070006 CA8703530 |
13 | R>Q | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_041377 CA8703532 RCV000645406 COSM1640771 rs35808156 |
13 | R>W | Variant assessed as Somatic; 0.0002312 impact. stomach Polyhydramnios, megalencephaly, and symptomatic epilepsy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770208738 RCV001324412 CA8703528 |
18 | K>N | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400595637 rs768402945 RCV000685817 |
30 | F>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8703512 rs143559168 RCV000645410 |
35 | P>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218734 CA8703508 rs538131743 |
39 | R>Q | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2036691634 RCV001316275 |
42 | T>P | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400594457 RCV001232810 rs1372878030 |
43 | N>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001212870 CA8703476 rs375396155 RCV001751390 |
47 | S>* | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298525 rs2036687764 |
54 | S>P | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2036687318 RCV001051187 |
57 | E>V | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305712 VAR_041378 RCV000656059 CA292948710 rs56271007 |
60 | S>I | Polyhydramnios, megalencephaly, and symptomatic epilepsy Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000656058 CA292948694 VAR_041379 rs55695051 |
64 | P>S | Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs149172145 COSM982677 CA292948691 RCV001201684 |
65 | E>D | endometrium Polyhydramnios, megalencephaly, and symptomatic epilepsy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA400594132 rs1598188425 RCV000810124 |
66 | G>R | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8703470 rs753976287 RCV001326933 |
67 | G>V | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1255799252 RCV001344559 |
83 | M>missing | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061984 rs767297496 |
85 | V>missing | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801756 CA292948310 rs1034960843 |
92 | P>A | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000527917 rs555623031 CA292948303 |
99 | V>A | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690153 RCV002544867 CA400593655 rs1408932415 |
100 | R>Q | Variant assessed as Somatic; impact. Polyhydramnios, megalencephaly, and symptomatic epilepsy Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs144919702 RCV001060235 CA8703434 |
109 | N>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA292946192 RCV000542506 rs1045863605 |
123 | K>R | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA400593119 RCV000694619 rs1451039260 |
128 | P>A | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA292946164 RCV000691054 rs756995943 |
131 | V>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806024 CA8703403 rs756995943 |
131 | V>M | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555699052 CA400593041 RCV000656057 |
135 | A>T | Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400593008 rs1329963868 RCV001241909 |
137 | F>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000794439 rs767564418 CA8703398 RCV000519468 |
138 | I>V | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs575363693 CA8703377 RCV000814938 |
155 | A>V | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs61734987 RCV000645408 CA8703373 |
161 | T>I | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61734984 CA8703371 RCV000552849 |
170 | L>V | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1004131748 CA292945943 RCV001302103 |
171 | A>V | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8703367 rs777475313 CA8703368 RCV000645400 |
179 | V>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA8703363 rs200492727 RCV000689888 |
184 | D>N | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778919231 RCV001239183 CA8703323 |
207 | G>A | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745739301 RCV000645405 CA400591663 CA8703324 |
207 | G>R | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001346029 rs751638115 |
217 | N>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1231348037 CA400591500 RCV001341025 |
223 | H>D | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA292943440 rs35598314 RCV001044615 |
228 | R>* | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1405579656 CA400591420 RCV000698868 |
232 | D>G | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001046236 rs1266452858 |
232 | D>N | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8703310 RCV001295738 rs746686925 |
236 | Y>C | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs201773578 RCV000555859 CA8703305 |
246 | P>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349068 rs2036157759 |
250 | Q>E | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057519011 RCV000415304 RCV001675892 CA16043633 |
264 | S>R | Epilepsy Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001038761 rs919296546 CA292942988 |
275 | G>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8703273 rs753176642 RCV001212425 |
276 | H>R | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000240850 rs886037929 |
281 | D>missing | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767048572 RCV001217866 CA8703272 |
283 | P>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8703184 rs761948281 RCV000693118 |
302 | T>N | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8703181 RCV001297615 rs376897097 |
304 | T>I | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2035942888 RCV001041241 |
306 | P>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8703179 rs772354394 RCV000700479 |
307 | A>T | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs372229032 RCV003159851 CA8703178 RCV000544385 |
308 | E>K | Polyhydramnios, megalencephaly, and symptomatic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8703175 RCV001234523 rs375825074 |
315 | S>L | Variant assessed as Somatic; 0.0 impact. Polyhydramnios, megalencephaly, and symptomatic epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA400588097 rs1316550098 RCV001071676 |
316 | R>C | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA400588086 RCV000559217 rs1305201887 |
316 | R>H | Variant assessed as Somatic; 0.0 impact. Polyhydramnios, megalencephaly, and symptomatic epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA400588052 RCV001206054 rs1374148102 |
317 | S>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1054346791 RCV000695786 CA292941244 |
318 | V>A | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000645404 rs539671529 RCV002530016 CA8703169 COSM4138151 |
331 | T>I | pancreas Polyhydramnios, megalencephaly, and symptomatic epilepsy Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs539671529 CA8703168 RCV000695041 |
331 | T>N | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000697448 rs754413346 CA8703165 |
333 | R>Q | Variant assessed as Somatic; 0.0 impact. Polyhydramnios, megalencephaly, and symptomatic epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8703167 rs761989598 RCV000793198 |
333 | R>W | Variant assessed as Somatic; 0.0 impact. Polyhydramnios, megalencephaly, and symptomatic epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001248388 CA400587484 rs772509390 |
337 | G>S | Variant assessed as Somatic; 0.0 impact. Polyhydramnios, megalencephaly, and symptomatic epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2035934106 RCV001326253 |
342 | H>missing | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748855607 CA8703156 RCV000645402 |
346 | R>* | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8703150 rs376896311 RCV000690259 |
351 | H>D | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309579 CA8703149 rs766039153 |
351 | H>Q | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8703152 rs376896311 RCV002561206 RCV001206004 |
351 | H>Y | Polyhydramnios, megalencephaly, and symptomatic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001220568 rs2035928525 |
355 | F>L | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400586837 rs1397365424 RCV001298088 |
356 | V>A | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001246155 rs760725435 CA8703145 |
362 | R>H | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001208629 rs775610521 CA400586574 |
364 | P>R | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1793806473 RCV001220557 |
381 | Q>* | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341642 rs528852128 |
382 | I>missing | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292940715 RCV001308607 rs774402517 |
392 | E>K | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001320108 CA8703069 rs750892004 |
395 | R>C | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA292940703 rs917413711 RCV001217488 |
399 | P>S | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051100 CA8703060 rs200730710 |
408 | S>Y | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001232231 CA292940681 rs373358406 |
413 | G>R | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001212132 rs568606349 CA8703055 |
422 | E>K | Polyhydramnios, megalencephaly, and symptomatic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001229029 CA8703054 rs748003173 |
425 | E>Q | Variant assessed as Somatic; 0.0 impact. Polyhydramnios, megalencephaly, and symptomatic epilepsy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| TCGA novel | 6 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172970588 CA400596281 |
8 | P>T | No |
ClinGen gnomAD |
|
|
rs767097328 CA8703561 |
9 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751121350 CA8703559 |
10 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8703560 rs751121350 |
10 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000723111 rs1568212478 |
11 | I>missing | No |
ClinVar dbSNP |
|
|
CA8703556 rs772864848 |
12 | R>G | No |
ClinGen ExAC |
|
|
rs990757419 CA292955934 |
14 | W>* | No |
ClinGen Ensembl |
|
|
rs138764326 CA8703529 |
14 | W>R | No |
ClinGen ESP ExAC |
|
|
COSM144407 rs957557324 CA292955929 |
16 | S>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1227165792 CA400595775 |
18 | K>M | No |
ClinGen TOPMed |
|
|
rs1364545757 CA400595758 COSM1385177 |
19 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8703527 rs748543903 |
20 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781729268 CA8703526 |
21 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA400595735 rs781729268 |
21 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA400595649 rs1598236756 |
28 | E>G | No |
ClinGen Ensembl |
|
|
rs1164230298 CA400595652 |
28 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8703525 rs768402945 |
30 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400595019 rs1349915956 |
32 | E>A | No |
ClinGen gnomAD |
|
|
rs763022973 CA8703513 |
33 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs762277689 CA8703510 |
36 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777105928 CA8703509 |
36 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439355280 CA400594934 |
38 | T>S | No |
ClinGen TOPMed |
|
|
CA400594917 rs1290271750 |
40 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA292948767 rs922514948 |
45 | A>T | No |
ClinGen TOPMed |
|
|
rs777619656 CA8703477 COSM473185 |
45 | A>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 46 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372376128 CA8703475 |
48 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372376128 CA400594394 |
48 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254610973 CA400594376 |
49 | S>L | No |
ClinGen Ensembl |
|
|
rs1210217379 CA400594344 |
52 | S>F | No |
ClinGen TOPMed |
|
|
rs761735971 CA292948746 |
52 | S>T | No |
ClinGen Ensembl |
|
|
CA400594322 rs1479468870 |
53 | F>L | No |
ClinGen TOPMed |
|
|
rs371845914 CA8703473 |
58 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400594252 rs371845914 |
58 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400594226 rs1246931324 |
60 | S>G | No |
ClinGen gnomAD |
|
|
rs1286872946 CA400594168 |
63 | L>P | No |
ClinGen gnomAD |
|
|
rs138196043 CA292948681 |
70 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs993510642 CA292948665 |
72 | L>H | No |
ClinGen TOPMed |
|
|
CA400594022 rs1489815835 |
75 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268067037 CA400594018 |
76 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8703448 rs753092674 |
78 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292948322 rs768080720 |
81 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs892610831 CA292948314 |
88 | A>S | No |
ClinGen TOPMed |
|
|
CA400593776 rs1179891554 |
91 | K>E | No |
ClinGen TOPMed |
|
|
CA400593761 rs1034960843 |
92 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566614762 CA8703444 |
95 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1385340326 CA400593720 |
95 | E>V | No |
ClinGen gnomAD |
|
|
CA400593701 rs546795656 |
96 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8703442 rs762644008 |
97 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400593677 rs1379002888 |
98 | T>S | No |
ClinGen gnomAD |
|
|
rs1173944088 CA400593660 |
100 | R>W | No |
ClinGen gnomAD |
|
|
CA8703441 rs772678545 |
101 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8703440 rs769255504 |
101 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs776377758 CA8703438 |
104 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8703436 rs746780821 |
106 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs934215646 CA292948250 |
107 | C>F | No |
ClinGen TOPMed |
|
|
CA8703435 rs779960487 |
108 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1484482784 CA400593554 |
109 | N>D | No |
ClinGen gnomAD |
|
|
rs144919702 CA400593548 |
109 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400593542 rs1227962484 |
110 | E>K | No |
ClinGen gnomAD |
|
|
rs778161516 CA8703432 |
111 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA400593523 rs1299944308 |
111 | M>V | No |
ClinGen gnomAD |
|
|
CA8703409 rs755408458 |
118 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1321703425 CA400593183 |
120 | H>Y | No |
ClinGen gnomAD |
|
|
CA292946197 rs201127301 |
121 | V>I | No |
ClinGen Ensembl |
|
|
rs1598175387 CA400593150 |
123 | K>N | No |
ClinGen Ensembl |
|
|
rs1419271082 CA400593138 |
125 | F>S | No |
ClinGen gnomAD |
|
|
rs780562744 CA8703407 |
126 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400593130 rs780562744 |
126 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182813125 CA400593125 |
127 | H>Y | No |
ClinGen gnomAD |
|
|
rs1012654746 CA292946183 |
128 | P>L | No |
ClinGen Ensembl |
|
|
rs894224049 CA292946181 |
130 | I>T | No |
ClinGen Ensembl |
|
|
COSM1479858 CA400593098 rs1207933507 |
130 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs753270109 CA8703402 |
133 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs763615123 CA8703401 |
134 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763615123 CA400593047 |
134 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141081057 CA8703400 COSM707720 |
134 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8703399 rs141081057 |
134 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400592985 rs1406641046 |
139 | A>S | No |
ClinGen gnomAD |
|
|
CA8703397 rs759399279 |
140 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534359584 CA8703395 |
141 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400592935 rs1373160870 |
142 | E>D | No |
ClinGen TOPMed |
|
|
rs1177954505 CA400592858 |
148 | S>L | No |
ClinGen gnomAD |
|
|
rs1477833021 CA400592838 |
150 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8703394 rs748443631 |
152 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs766158225 CA8703378 |
153 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8703392 rs768734514 |
153 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776856899 CA8703376 |
157 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760741767 CA8703374 |
159 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8703375 rs768767759 |
159 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA292945986 rs564358992 |
162 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA400592692 rs1347918699 |
162 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA292945984 rs962712745 |
163 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400592663 rs1225606040 |
164 | M>T | No |
ClinGen gnomAD |
|
|
CA400592670 rs1404023475 |
164 | M>V | No |
ClinGen TOPMed |
|
|
CA8703372 rs772549718 |
167 | M>T | No |
ClinGen ExAC |
|
|
rs1447750115 CA400592574 |
171 | A>S | No |
ClinGen gnomAD |
|
|
rs1435608525 CA400592564 |
173 | A>T | No |
ClinGen gnomAD |
|
|
CA400592542 rs1166773282 |
176 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400592530 rs1451479267 |
178 | G>R | No |
ClinGen gnomAD |
|
|
rs1460100761 CA400592521 |
179 | V>G | No |
ClinGen gnomAD |
|
|
CA8703365 rs752231541 |
181 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1221761823 CA400592478 |
183 | L>F | No |
ClinGen TOPMed |
|
|
rs1013522525 CA292945846 |
186 | I>T | No |
ClinGen TOPMed |
|
|
CA292945869 rs974536314 |
186 | I>V | No |
ClinGen gnomAD |
|
|
CA292945840 rs962762452 |
187 | H>R | No |
ClinGen Ensembl |
|
|
CA8703361 rs766241725 |
189 | M>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768478785 CA8703328 |
196 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1598160409 CA400591752 |
198 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 200 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388177166 CA400591715 |
201 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758331473 CA8703325 |
204 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA400591677 rs1441591625 |
205 | V>G | No |
ClinGen gnomAD |
|
|
rs778919231 CA400591659 |
207 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455191414 CA400591642 |
209 | V>F | No |
ClinGen gnomAD |
|
|
rs1598160217 CA400591637 |
209 | V>G | No |
ClinGen Ensembl |
|
|
CA8703321 rs753694353 |
210 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8703322 rs756991588 |
210 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs767725266 CA8703320 |
212 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs144283428 CA292943480 |
215 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA292943477 rs750512077 |
215 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 216 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207251517 CA400591579 |
216 | S>R | No |
ClinGen gnomAD |
|
|
rs751638115 CA8703318 |
217 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA400591554 rs1255573306 |
218 | L>H | No |
ClinGen gnomAD |
|
|
CA400591538 rs1267965043 |
220 | M>L | No |
ClinGen TOPMed |
|
|
CA8703314 rs765852114 |
226 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773525138 CA8703315 |
226 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568177118 CA400591461 |
227 | Q>* | No |
ClinGen Ensembl |
|
|
CA400591456 rs1293431553 |
227 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400591460 rs1242154642 |
227 | Q>P | No |
ClinGen TOPMed |
|
|
CA8703313 rs762253647 |
228 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400591450 rs1385406846 |
229 | V>M | No |
ClinGen gnomAD |
|
|
rs777200120 CA8703312 |
230 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1043978855 CA292943426 |
230 | V>L | No |
ClinGen TOPMed |
|
|
CA8703311 COSM72841 rs768390501 |
231 | H>D | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1266452858 CA400591422 |
232 | D>Y | No |
ClinGen Ensembl |
|
|
rs1399143994 CA400591405 |
233 | F>C | No |
ClinGen TOPMed |
|
|
CA292943417 rs141993862 |
237 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1195974818 CA400591358 |
238 | V>I | No |
ClinGen gnomAD |
|
|
CA8703308 rs771439295 |
240 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs745400938 CA8703307 |
242 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400591285 rs1357911309 |
243 | W>* | No |
ClinGen TOPMed |
|
|
CA8703303 rs777595036 |
247 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA292943402 rs934422674 |
248 | V>L | No |
ClinGen TOPMed |
|
|
CA400591194 rs1268277078 |
251 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA400591104 rs1391505279 |
252 | N>H | No |
ClinGen gnomAD |
|
|
CA8703279 rs750497708 |
255 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200912169 CA292943057 |
256 | Y>F | No |
ClinGen 1000Genomes |
|
| TCGA novel | 257 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463290994 CA400590993 |
258 | A>P | No |
ClinGen gnomAD |
|
|
rs939322609 CA292943033 |
263 | Y>C | No |
ClinGen TOPMed |
|
|
CA400590855 rs1158642819 |
264 | S>N | No |
ClinGen gnomAD |
|
|
rs1234853228 CA400590843 |
265 | V>M | No |
ClinGen gnomAD |
|
|
COSM251154 CA8703277 rs757432722 |
266 | G>A | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA292942999 rs866615378 |
273 | A>T | No |
ClinGen Ensembl |
|
|
CA8703276 rs754353231 |
274 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA292942969 rs980837225 |
278 | P>S | No |
ClinGen TOPMed |
|
|
rs1223055667 CA400590559 |
281 | D>G | No |
ClinGen gnomAD |
|
|
CA292942951 rs969581225 |
281 | D>H | No |
ClinGen TOPMed |
|
|
CA400590534 rs1348067792 |
282 | M>I | No |
ClinGen gnomAD |
|
|
rs202125976 CA292942934 |
282 | M>T | No |
ClinGen Ensembl |
|
|
rs868651797 CA292942914 |
283 | P>S | No |
ClinGen Ensembl |
|
|
CA400590488 rs1190746792 |
285 | T>I | No |
ClinGen TOPMed |
|
|
CA400590461 rs1239122013 |
286 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1485688235 CA400588906 |
287 | M>K | No |
ClinGen gnomAD |
|
|
CA8703189 rs752707400 |
294 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485280687 CA400588687 |
295 | T>R | No |
ClinGen Ensembl |
|
|
rs767384413 CA8703188 |
296 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8703186 rs576677912 |
301 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1296491238 CA400588493 |
302 | T>A | No |
ClinGen gnomAD |
|
|
CA400588453 rs1171315107 |
303 | S>N | No |
ClinGen gnomAD |
|
|
rs368503506 CA400588305 |
308 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400588319 rs1568171049 |
308 | E>G | No |
ClinGen Ensembl |
|
|
rs1481364195 CA400588284 |
309 | E>D | No |
ClinGen gnomAD |
|
|
CA8703176 rs756903153 |
310 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA400588239 rs1379236268 |
311 | T>I | No |
ClinGen TOPMed |
|
|
rs1213623226 CA400588185 |
312 | M>I | No |
ClinGen gnomAD |
|
|
CA400588141 rs1467387694 |
314 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400588138 rs1467387694 |
314 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1196396564 CA400588068 |
317 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 319 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392258744 CA400587985 |
320 | N>H | No |
ClinGen gnomAD |
|
|
rs1362851834 CA400587902 |
322 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 324 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762120842 | 333 | R>G | Variant assessed as Somatic; 0.0001973 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8703166 rs754413346 |
333 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400587579 rs1380411817 |
334 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400587575 rs1380411817 |
334 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200559640 CA8703162 |
336 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768681065 CA8703163 |
336 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8703160 rs772509390 |
337 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400587363 rs1214691124 |
339 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 341 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400587303 rs1598147491 |
342 | H>P | No |
ClinGen Ensembl |
|
|
rs1304082800 CA400587239 |
344 | Y>H | No |
ClinGen TOPMed |
|
|
CA400587175 rs1598147420 |
345 | H>P | No |
ClinGen Ensembl |
|
|
CA400587188 rs1302731691 |
345 | H>Y | No |
ClinGen gnomAD |
|
|
CA400587144 rs1216340850 |
346 | R>P | No |
ClinGen TOPMed |
|
|
CA400587147 rs1216340850 |
346 | R>Q | No |
ClinGen TOPMed |
|
|
CA400587075 rs1387082356 |
349 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8703154 rs534294111 |
350 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8703155 rs554344652 |
350 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400587012 rs1429379773 |
351 | H>L | No |
ClinGen TOPMed |
|
|
CA8703151 rs376896311 |
351 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400587019 rs1429379773 |
351 | H>P | No |
ClinGen TOPMed |
|
|
CA292941178 rs936534513 |
354 | H>Y | No |
ClinGen TOPMed |
|
|
rs753990196 CA8703147 |
357 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs764311000 CA8703146 |
362 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400586625 rs1398524814 |
363 | N>S | No |
ClinGen TOPMed |
|
|
rs775610521 CA8703144 |
364 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1309903629 CA400586554 |
365 | D>H | No |
ClinGen TOPMed |
|
|
rs568541908 CA8703142 |
366 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1208804362 CA400586519 |
366 | A>T | No |
ClinGen gnomAD |
|
|
rs568541908 CA400586504 |
366 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8703113 rs202183893 |
367 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1277804794 | 369 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8703111 rs772062217 |
369 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237637806 CA400586054 |
370 | A>G | No |
ClinGen gnomAD |
|
|
CA8703110 rs745628385 |
372 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA400586028 rs745628385 |
372 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1394464403 CA400585949 |
377 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs9915192 CA8703075 |
384 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400585787 rs9915192 |
384 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781267357 CA8703074 |
384 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8703073 rs755268323 |
385 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8703072 rs751571199 |
385 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8703071 rs780234128 |
386 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1269947620 CA400585760 |
387 | S>P | No |
ClinGen gnomAD |
|
|
CA8703070 rs758581362 |
388 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA400585681 rs1568168282 |
393 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 393 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150880597 CA8703068 |
395 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400585656 rs1171628927 |
396 | P>S | No |
ClinGen gnomAD |
|
|
rs971998089 CA292940707 |
398 | T>I | No |
ClinGen Ensembl |
|
|
CA400585637 rs1598142981 |
398 | T>P | No |
ClinGen Ensembl |
|
|
CA400585621 rs1305493174 |
399 | P>L | No |
ClinGen TOPMed |
|
| rs1338109646 | 400 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762253780 CA8703066 |
401 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs762253780 CA400585606 |
401 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA292940699 rs991274034 |
402 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763620566 CA8703064 |
404 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775039080 CA8703062 |
405 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA400585549 rs1320925376 |
405 | G>S | No |
ClinGen TOPMed |
|
|
rs771506311 CA8703061 |
406 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1254740486 CA400585518 |
407 | Q>P | No |
ClinGen gnomAD |
|
|
CA292940685 rs200730710 |
408 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313292164 CA400585494 |
409 | Q>P | No |
ClinGen gnomAD |
|
|
CA400585428 rs1447251706 |
414 | I>V | No |
ClinGen gnomAD |
|
|
CA8703056 rs773110344 |
419 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1197848632 CA400585265 |
424 | L>V | No |
ClinGen TOPMed |
|
|
rs1171182845 CA400585179 |
428 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1171182845 CA400585171 |
428 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1415297615 CA400585036 |
432 | F>G | No |
ClinGen gnomAD |
1 associated diseases with Q7RTN6
Without disease ID
1 regional properties for Q7RTN6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 69 - 379 | IPR000719 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intracellular protein-containing complex | A protein-containing complex located intracellularly. |
| 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. |
| serine/threonine protein kinase complex | A protein complex which is capable of protein serine/threonine kinase activity. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| protein kinase activator activity | Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. |
| protein serine/threonine kinase activator activity | Binds to and increases the activity of a protein serine/threonine kinase. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| G1 to G0 transition | A cell cycle arrest process that results in arrest during G1 phase, whereupon the cell enters a specialized resting state known as G0 or quiescence. |
| protein export from nucleus | The directed movement of a protein from the nucleus into the cytoplasm. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95747 | OXSR1 | Serine/threonine-protein kinase OSR1 | Homo sapiens (Human) | PR |
| Q9UEW8 | STK39 | STE20/SPS1-related proline-alanine-rich protein kinase | Homo sapiens (Human) | PR |
| Q9C0K7 | STRADB | STE20-related kinase adapter protein beta | Homo sapiens (Human) | PR |
| Q6P9R2 | Oxsr1 | Serine/threonine-protein kinase OSR1 | Mus musculus (Mouse) | PR |
| Q9Z1W9 | Stk39 | STE20/SPS1-related proline-alanine-rich protein kinase | Mus musculus (Mouse) | PR |
| Q8K4T3 | Stradb | STE20-related kinase adapter protein beta | Mus musculus (Mouse) | PR |
| Q3UUJ4 | Strada | STE20-related kinase adapter protein alpha | Mus musculus (Mouse) | PR |
| Q863I2 | OXSR1 | Serine/threonine-protein kinase OSR1 | Sus scrofa (Pig) | PR |
| O88506 | Stk39 | STE20/SPS1-related proline-alanine-rich protein kinase | Rattus norvegicus (Rat) | PR |
| Q7TNZ6 | Strada | STE20-related kinase adapter protein alpha | Rattus norvegicus (Rat) | PR |
| O23304 | BLUS1 | Serine/threonine-protein kinase BLUS1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSFLVSKPER | IRRWVSEKFI | VEGLRDLELF | GEQPPGDTRR | KTNDASSESI | ASFSKQEVMS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SFLPEGGCYE | LLTVIGKGFE | DLMTVNLARY | KPTGEYVTVR | RINLEACSNE | MVTFLQGELH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSKLFNHPNI | VPYRATFIAD | NELWVVTSFM | AYGSAKDLIC | THFMDGMNEL | AIAYILQGVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KALDYIHHMG | YVHRSVKASH | ILISVDGKVY | LSGLRSNLSM | ISHGQRQRVV | HDFPKYSVKV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPWLSPEVLQ | QNLQGYDAKS | DIYSVGITAC | ELANGHVPFK | DMPATQMLLE | KLNGTVPCLL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DTSTIPAEEL | TMSPSRSVAN | SGLSDSLTTS | TPRPSNGDSP | SHPYHRTFSP | HFHHFVEQCL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QRNPDARPSA | STLLNHSFFK | QIKRRASEAL | PELLRPVTPI | TNFEGSQSQD | HSGIFGLVTN |
| 430 | |||||
| LEELEVDDWE | F |