Q6XUX3
Gene name |
DSTYK (KIAA0472, RIP5, RIPK5, SGK496, HDCMD38P) |
Protein name |
Dual serine/threonine and tyrosine protein kinase |
Names |
Dusty protein kinase, Dusty PK, RIP-homologous kinase, Receptor-interacting serine/threonine-protein kinase 5, Sugen kinase 496, SgK496 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25778 |
EC number |
2.7.12.1: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
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
794-814 (Activation loop from InterPro)
Target domain |
652-906 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

1 structures for Q6XUX3
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q6XUX3-F1 | Predicted | AlphaFoldDB |
729 variants for Q6XUX3
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA10575599 RCV000054498 rs879255515 |
8 | W>* | Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA1353145 RCV000416593 RCV002057056 rs202068245 |
18 | P>L | Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001170058 VAR_071324 RCV000054500 RCV000902729 CA144624 rs200780796 |
29 | R>Q | Congenital anomalies of kidney and urinary tract 1 CAKUT1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000416576 CA1353058 rs373780579 |
120 | D>N | Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
VAR_071325 | 200 | D>G | CAKUT1 [UniProt] | Yes | UniProt |
rs748982270 RCV001328902 RCV000996116 CA36441693 |
203 | H>Q | Hereditary spastic paraplegia 23 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
CA1352918 rs573628666 RCV001029927 |
354 | R>C | Variant assessed as Somatic; 0.0 impact. Congenital anomalies of kidney and urinary tract 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
rs555607162 RCV000416590 CA16044138 |
418 | D>G | Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs77626160 RCV003147620 RCV001333861 CA344397914 |
462 | R>* | Hereditary spastic paraplegia 23 Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000416602 CA1352764 rs148815814 RCV002515572 |
592 | R>Q | Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001696198 RCV000244891 rs3851294 CA1352716 RCV001660329 RCV001660328 |
641 | C>R | Hereditary spastic paraplegia 23 Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000416598 rs773130126 CA1352590 |
790 | R>C | Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000782188 VAR_071326 rs778586547 CA1352561 |
843 | S>L | CAKUT1 [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
RCV001028006 rs1574742379 CA344387019 |
869 | A>S | Congenital anomalies of kidney and urinary tract 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA344404000 rs1241841144 |
2 | E>D | No |
ClinGen gnomAD |
|
CA36435379 rs906132247 |
2 | E>K | No |
ClinGen Ensembl |
|
rs1209960432 CA344403995 |
3 | G>C | No |
ClinGen gnomAD |
|
CA36435374 rs1045846586 |
4 | D>A | No |
ClinGen Ensembl |
|
CA344403986 rs1041953439 |
4 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA36435376 rs1041953439 |
4 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs1226609749 CA344403966 |
5 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs569941031 CA1353167 |
5 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344403956 rs1230702643 |
6 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA344403954 rs1230702643 |
6 | V>E | No |
ClinGen TOPMed gnomAD |
|
CA1353165 rs776063644 |
6 | V>L | No |
ClinGen ExAC gnomAD |
|
CA1353164 rs550252532 |
7 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1353163 rs550252532 |
7 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs761207358 CA1353160 |
8 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344403935 rs774599096 |
8 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761207358 CA1353161 |
8 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774599096 CA1353159 |
8 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768808653 CA1353158 |
9 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1427529910 CA344403925 |
9 | G>D | No |
ClinGen gnomAD |
|
rs768808653 CA344403927 |
9 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768808653 CA344403929 |
9 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353157 rs749371298 |
10 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1229304292 CA344403907 |
10 | S>R | No |
ClinGen TOPMed |
|
CA1353156 rs780062821 |
11 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1574811975 CA344403889 |
12 | P>A | No |
ClinGen Ensembl |
|
CA1353155 rs757115952 |
12 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs912040182 CA36435306 |
13 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs777508863 CA1353153 |
14 | S>A | No |
ClinGen ExAC gnomAD |
|
rs753322115 CA1353148 |
15 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353149 rs200741404 |
15 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs753322115 CA344403871 |
15 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353150 rs200741404 |
15 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA36435297 rs200741404 |
15 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344403870 rs753322115 |
15 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761213465 CA1353147 |
16 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1439066715 CA344403868 |
16 | P>L | No |
ClinGen TOPMed |
|
rs761213465 CA1353146 |
16 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344403862 rs1285842164 |
17 | G>D | No |
ClinGen gnomAD |
|
rs1379838726 CA344403864 |
17 | G>R | No |
ClinGen gnomAD |
|
CA344403865 rs1379838726 |
17 | G>S | No |
ClinGen gnomAD |
|
CA344403852 rs774633972 |
19 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353142 rs774633972 |
19 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353143 rs762245291 |
19 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774633972 CA344403851 |
19 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344403848 rs1405401537 |
20 | G>C | No |
ClinGen TOPMed gnomAD |
|
CA344403846 rs1416594238 |
20 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA344403850 rs1405401537 |
20 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1416594238 CA344403847 |
20 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1472540962 CA344403842 |
21 | G>C | No |
ClinGen gnomAD |
|
rs1472540962 CA344403843 |
21 | G>S | No |
ClinGen gnomAD |
|
rs1184748693 CA344403825 |
23 | M>I | No |
ClinGen gnomAD |
|
rs775578460 CA1353137 |
25 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1025385058 CA36435252 |
25 | R>H | No |
ClinGen TOPMed |
|
rs1025385058 CA344403813 |
25 | R>L | No |
ClinGen TOPMed |
|
CA344403806 rs1291955320 |
26 | E>D | No |
ClinGen gnomAD |
|
rs1222446347 CA344403812 |
26 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1323512302 CA344403807 |
26 | E>V | No |
ClinGen gnomAD |
|
rs1023884958 CA344403791 |
29 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs1288803891 CA344403785 |
30 | G>C | No |
ClinGen TOPMed gnomAD |
|
rs1288803891 CA344403787 |
30 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA1353134 rs199644054 |
32 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344403768 rs778579455 |
33 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353131 rs754601110 |
33 | R>L | No |
ClinGen ExAC gnomAD |
|
rs778579455 CA1353132 |
33 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353130 rs753456261 |
34 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1457217354 CA344403763 |
34 | Y>H | No |
ClinGen gnomAD |
|
CA344403757 rs1431767340 |
35 | R>C | No |
ClinGen gnomAD |
|
CA1353129 rs559636939 |
36 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs559636939 CA344403751 |
36 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs906100594 CA36435171 |
37 | Y>S | No |
ClinGen TOPMed |
|
rs768123228 CA344403731 |
39 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353126 rs768123228 |
39 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1268641294 CA344403729 |
40 | R>G | No |
ClinGen gnomAD |
|
rs1014360985 CA36435162 |
40 | R>Q | No |
ClinGen Ensembl |
|
CA1353123 rs751879517 |
42 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA36435136 rs775457934 |
44 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA344403708 rs775457934 |
44 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA36435135 rs890738468 |
44 | N>T | No |
ClinGen TOPMed gnomAD |
|
rs775661653 CA1353120 |
45 | L>R | No |
ClinGen ExAC gnomAD |
|
rs763182357 CA1353121 |
45 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1558632637 RCV000722917 |
46 | R>missing | No |
ClinVar dbSNP |
|
rs1435180858 CA344403697 |
46 | R>C | No |
ClinGen gnomAD |
|
rs1188039354 CA344403690 |
47 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA1353117 rs776759045 |
47 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1188039354 CA344403689 |
47 | E>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 47 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA344403681 rs1248581130 |
48 | T>I | No |
ClinGen gnomAD |
|
CA36435091 rs936052276 |
50 | K>T | No |
ClinGen TOPMed gnomAD |
|
rs1295317405 CA344403647 |
53 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1295317405 CA344403648 |
53 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA1353116 rs771931255 |
54 | D>H | No |
ClinGen ExAC gnomAD |
|
CA1353112 rs749146065 |
55 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353114 rs778722938 |
55 | I>S | No |
ClinGen ExAC gnomAD |
|
CA344403631 rs1365215458 |
56 | K>Q | No |
ClinGen gnomAD |
|
CA36435053 rs1039031767 |
56 | K>R | No |
ClinGen Ensembl |
|
rs779830881 CA1353111 |
57 | C>W | No |
ClinGen ExAC gnomAD |
|
CA344403609 rs1394870957 |
59 | H>Y | No |
ClinGen gnomAD |
|
CA344403593 rs1403061592 |
61 | H>Y | No |
ClinGen TOPMed |
|
TCGA novel | 62 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1353110 rs755887691 |
62 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344403587 rs1404050991 |
62 | T>P | No |
ClinGen TOPMed |
|
TCGA novel | 62 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1353108 rs143001609 |
63 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344403582 rs143001609 |
63 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1353107 rs78212113 |
64 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA36435035 rs986749457 |
66 | S>F | No |
ClinGen Ensembl |
|
CA36435030 rs543550172 |
67 | L>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs543550172 CA36435015 |
67 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs753122153 CA1353103 |
68 | T>A | No |
ClinGen ExAC gnomAD |
|
CA344403553 rs765444355 |
68 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353102 rs765444355 |
68 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344403549 rs1303176640 |
69 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA1353099 rs770940471 |
69 | G>S | No |
ClinGen ExAC gnomAD |
|
CA1353097 rs774123961 |
70 | G>S | No |
ClinGen ExAC gnomAD |
|
rs113488459 CA344403540 |
71 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs113488459 CA1353096 |
71 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs916529551 CA36434950 |
72 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs749023249 CA1353095 |
73 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1241924760 CA344403527 |
73 | A>V | No |
ClinGen gnomAD |
|
rs769500233 CA1353094 |
74 | E>* | No |
ClinGen ExAC gnomAD |
|
CA1353093 rs769500233 |
74 | E>K | No |
ClinGen ExAC gnomAD |
|
CA36434926 rs962746435 |
75 | R>C | No |
ClinGen Ensembl |
|
rs1398168450 CA344403515 |
76 | G>S | No |
ClinGen gnomAD |
|
rs780798212 CA1353091 |
78 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344403488 rs1430685197 |
80 | D>Y | No |
ClinGen gnomAD |
|
TCGA novel | 81 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1372616933 CA344403469 |
83 | E>Q | No |
ClinGen gnomAD |
|
rs1161562310 CA344403461 |
84 | T>A | No |
ClinGen gnomAD |
|
rs76872152 CA36434906 |
85 | G>E | No |
ClinGen TOPMed |
|
rs1457440250 CA344403455 |
85 | G>W | No |
ClinGen gnomAD |
|
rs146982479 CA1353088 RCV001310895 |
86 | L>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1476139760 CA344403433 |
89 | G>S | No |
ClinGen gnomAD |
|
CA344405582 rs1331867958 |
92 | S>C | No |
ClinGen gnomAD |
|
CA1353067 rs779211149 |
92 | S>N | No |
ClinGen ExAC gnomAD |
|
CA1353066 rs755305796 |
98 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1399361942 CA344405386 |
102 | K>R | No |
ClinGen TOPMed |
|
CA344405342 rs1319738420 |
104 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1457691606 CA344405306 |
105 | Q>L | No |
ClinGen gnomAD |
|
CA1353064 rs766495411 |
107 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 107 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs922443042 CA36441898 |
109 | D>E | No |
ClinGen Ensembl |
|
CA344405219 rs1477517551 |
109 | D>V | No |
ClinGen gnomAD |
|
CA1353062 rs750402479 |
110 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA344405156 rs1447063850 |
112 | P>R | No |
ClinGen gnomAD |
|
TCGA novel | 114 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 114 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA36441878 rs976476529 |
118 | G>S | No |
ClinGen Ensembl |
|
CA1353059 rs377110889 |
119 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1353057 rs759395108 |
120 | D>E | No |
ClinGen ExAC gnomAD |
|
CA1353056 rs369567583 |
121 | C>F | No |
ClinGen ESP ExAC TOPMed |
|
TCGA novel | 123 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs147839849 CA344404960 |
123 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs147839849 CA1353055 |
123 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1353053 rs772548291 |
126 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1431438724 CA344404861 |
129 | N>S | No |
ClinGen gnomAD |
|
rs1450344609 CA344404811 |
132 | L>F | No |
ClinGen TOPMed |
|
CA1353048 rs749611069 |
134 | V>A | No |
ClinGen ExAC |
|
CA344404797 rs377144521 |
134 | V>L | No |
ClinGen ESP TOPMed |
|
CA36441802 rs377144521 |
134 | V>M | No |
ClinGen ESP TOPMed |
|
CA1353046 rs756229043 |
135 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA344404769 rs1406185848 |
136 | V>L | No |
ClinGen gnomAD |
|
rs757377763 CA1353043 |
139 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1353041 rs150925718 |
143 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 144 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1353040 rs759554676 COSM1500783 |
144 | S>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1393677319 CA344404655 |
145 | E>K | No |
ClinGen gnomAD |
|
rs1443295905 CA344404609 |
148 | C>S | No |
ClinGen gnomAD |
|
rs1423155978 CA344404582 |
151 | R>Q | No |
ClinGen TOPMed |
|
rs183180194 CA1353039 |
151 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs202242580 CA1353038 |
152 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs374400399 CA1353037 COSM1338165 |
152 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA |
rs150727939 CA1353035 |
153 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs367737631 CA1353034 |
154 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
rs141159612 CA1353032 RCV000881174 |
154 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141159612 CA1353033 |
154 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs546458057 CA1353031 |
157 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA344404535 rs1282285757 |
157 | Y>H | No |
ClinGen gnomAD |
|
CA344404513 rs1355916475 |
159 | T>S | No |
ClinGen gnomAD |
|
CA344404497 rs1574786374 |
160 | Q>H | No |
ClinGen Ensembl |
|
CA344404486 rs1428009008 |
161 | T>S | No |
ClinGen TOPMed |
|
CA344404477 rs144353653 |
162 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs144353653 CA1353028 |
162 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770221747 CA1353029 |
162 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1170560711 CA344404453 |
165 | L>P | No |
ClinGen gnomAD |
|
rs143877075 CA1353027 |
166 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA344404429 rs1249876537 |
168 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs751625087 CA344404409 |
170 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA1353025 rs751625087 |
170 | Q>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 170 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1353023 rs754915090 |
171 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1291205969 CA344404402 |
171 | Y>H | No |
ClinGen TOPMed |
|
rs1035843168 CA36441710 |
175 | H>D | No |
ClinGen Ensembl |
|
CA1353022 rs753846160 |
176 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760498805 CA344404331 |
178 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs903310578 CA36441706 |
178 | V>G | No |
ClinGen Ensembl |
|
rs760498805 CA1353020 |
178 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344404305 rs1206717966 |
180 | H>Q | No |
ClinGen gnomAD |
|
CA344404310 rs1195579009 |
180 | H>Y | No |
ClinGen TOPMed |
|
CA1353019 rs750241134 |
181 | Q>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 182 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1353018 rs767151120 |
182 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344404266 rs1472335432 |
185 | E>D | No |
ClinGen TOPMed |
|
CA1353017 rs199944046 |
188 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1415831125 CA344404250 |
188 | P>H | No |
ClinGen TOPMed |
|
rs199548630 CA1353016 |
190 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 193 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1360778637 CA344404207 |
193 | E>K | No |
ClinGen TOPMed |
|
rs1407714708 CA344404116 |
198 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA1353014 rs763325257 |
203 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763613192 CA1353015 |
203 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1447733267 CA344404037 |
206 | A>V | No |
ClinGen TOPMed |
|
rs1359033175 CA344404014 |
208 | L>P | No |
ClinGen TOPMed |
|
rs770250006 CA1353012 |
209 | E>D | No |
ClinGen ExAC |
|
rs563828272 CA1353011 |
211 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1353010 rs771058036 |
212 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA36441684 rs1017736459 |
214 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA344403941 rs1420583036 |
214 | H>R | No |
ClinGen gnomAD |
|
rs1050080497 CA36441682 |
215 | A>T | No |
ClinGen Ensembl |
|
CA1353009 rs771223776 |
215 | A>V | No |
ClinGen ExAC gnomAD |
|
rs747261792 CA1353008 |
216 | L>V | No |
ClinGen ExAC gnomAD |
|
CA1353007 rs777960255 |
218 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352977 rs182725278 |
221 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200086272 CA1352979 |
221 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA1352975 rs760053061 |
222 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352976 rs760053061 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA36432757 rs1009732389 |
223 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA1352974 rs754365487 |
224 | V>A | No |
ClinGen ExAC gnomAD |
|
CA1352972 rs761109084 |
229 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1349565747 CA344402340 |
231 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1211244077 CA344402342 |
231 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1317025378 CA344402324 |
234 | V>L | No |
ClinGen TOPMed |
|
rs1574767100 CA344402308 |
236 | V>G | No |
ClinGen Ensembl |
|
rs769344388 CA36432744 |
236 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA1352970 rs772267864 |
238 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 241 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1574767063 CA344402278 |
241 | V>G | No |
ClinGen Ensembl |
|
rs774439952 CA1352969 |
241 | V>L | No |
ClinGen ExAC gnomAD |
|
CA1352968 rs774439952 |
241 | V>M | No |
ClinGen ExAC gnomAD |
|
CA1352966 rs374624788 |
242 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1203920214 CA344402241 |
247 | V>M | No |
ClinGen gnomAD |
|
CA1352963 rs146503031 |
248 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs549446265 CA1352961 |
249 | T>I | No |
ClinGen 1000Genomes ExAC |
|
rs752327873 CA1352960 |
250 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs778672032 CA1352959 |
251 | A>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 254 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1183804343 CA344402181 |
256 | E>K | No |
ClinGen TOPMed |
|
CA344402172 rs1256596723 |
257 | L>V | No |
ClinGen gnomAD |
|
rs1486463268 CA344402161 |
259 | E>K | No |
ClinGen gnomAD |
|
CA1352957 rs753457437 |
260 | R>S | No |
ClinGen ExAC gnomAD |
|
CA344402147 rs1558609608 |
261 | D>N | No |
ClinGen Ensembl |
|
TCGA novel | 262 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1574766932 CA344402127 |
263 | Q>R | No |
ClinGen Ensembl |
|
TCGA novel | 267 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM902738 CA1352956 rs766990251 |
269 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs761266476 CA1352955 |
269 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1294312741 CA344402059 |
271 | Y>C | No |
ClinGen gnomAD |
|
rs200487573 CA1352953 |
273 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 274 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1352952 rs762054497 |
275 | P>A | No |
ClinGen ExAC gnomAD |
|
rs567432027 CA1352951 |
277 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA344401976 rs1401773239 |
279 | F>I | No |
ClinGen TOPMed |
|
CA344401974 rs1574766868 |
279 | F>S | No |
ClinGen Ensembl |
|
TCGA novel | 279 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1352950 rs768967753 |
280 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1403998472 CA344401959 |
281 | V>A | No |
ClinGen TOPMed |
|
rs775610801 CA1352948 |
282 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370244638 COSM3385667 CA1352946 |
286 | S>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs370244638 CA344401929 |
286 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344401914 rs1558609530 |
288 | I>M | No |
ClinGen Ensembl |
|
CA344401892 rs1225386308 |
292 | S>T | No |
ClinGen TOPMed |
|
rs201109942 CA1352944 |
294 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 296 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA344401867 rs1409329881 |
296 | M>L | No |
ClinGen gnomAD |
|
rs1180720118 CA344401855 |
297 | E>A | No |
ClinGen gnomAD |
|
rs1438044369 CA344401852 |
297 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs778420247 CA1352942 |
299 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754747511 CA1352941 |
300 | R>G | No |
ClinGen ExAC gnomAD |
|
rs373701022 CA1352939 |
302 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344401808 rs1380493812 |
304 | Y>C | No |
ClinGen gnomAD |
|
CA1352938 rs779720873 |
305 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM902736 rs756636882 CA1352937 |
305 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA1352936 rs750921983 |
306 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA1352935 rs768105138 |
307 | L>P | No |
ClinGen ExAC gnomAD |
|
CA1352934 rs757540020 |
308 | I>V | No |
ClinGen ExAC gnomAD |
|
rs370760844 CA36432615 |
311 | G>A | No |
ClinGen ESP TOPMed |
|
TCGA novel | 311 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA36432618 rs756512921 |
311 | G>R | No |
ClinGen Ensembl |
|
CA344401754 rs1326434998 |
312 | Y>S | No |
ClinGen gnomAD |
|
TCGA novel | 314 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1352931 rs148821812 |
314 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1470319851 CA344401633 |
318 | W>C | No |
ClinGen gnomAD |
|
rs775500481 CA1352930 |
318 | W>R | No |
ClinGen ExAC gnomAD |
|
CA344401585 rs1365138002 |
319 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1455466744 CA344401576 |
321 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 322 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1352929 rs765333744 |
324 | G>D | No |
ClinGen ExAC gnomAD |
|
CA1352927 rs773001432 |
326 | D>N | No |
ClinGen ExAC gnomAD |
|
CA1352926 rs145485055 |
328 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA36432546 rs878855827 |
331 | S>N | No |
ClinGen Ensembl |
|
CA344401402 rs1558609304 |
332 | M>I | No |
ClinGen Ensembl |
|
rs142787461 CA1352924 |
333 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1352923 rs199871698 |
335 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1352922 rs748968553 |
335 | E>V | No |
ClinGen ExAC gnomAD |
|
rs542688934 CA36432512 |
336 | Q>H | No |
ClinGen 1000Genomes gnomAD |
|
CA1352921 RCV000996115 rs377628453 |
336 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA344401333 rs1344353997 |
337 | S>N | No |
ClinGen TOPMed |
|
CA344401324 rs1443069982 |
338 | E>K | No |
ClinGen gnomAD |
|
CA344401186 rs1324562721 |
344 | S>N | No |
ClinGen gnomAD |
|
CA1352920 rs755650136 |
345 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1386696675 CA344401127 |
347 | S>F | No |
ClinGen gnomAD |
|
rs745431742 CA1352919 |
348 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA344401121 rs1170507449 |
348 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA344401104 rs1395198849 |
349 | Q>H | No |
ClinGen gnomAD |
|
rs1284619464 CA344401080 |
352 | Q>E | No |
ClinGen TOPMed |
|
rs1574766474 CA344401068 |
353 | T>P | No |
ClinGen Ensembl |
|
rs573628666 CA344401053 |
354 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs560755065 CA1352917 |
354 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344401037 rs1194870249 |
356 | V>A | No |
ClinGen TOPMed |
|
CA344401040 rs1194353109 |
356 | V>M | No |
ClinGen gnomAD |
|
rs751802361 CA1352916 |
360 | K>E | No |
ClinGen ExAC gnomAD |
|
CA344400985 rs764466450 |
360 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344400972 rs1438695120 |
361 | A>T | No |
ClinGen TOPMed |
|
CA1352913 rs374059613 |
364 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA344400912 rs1226219707 |
365 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs369636944 CA1352912 |
368 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
CA344400852 rs1574766314 |
368 | H>Y | No |
ClinGen Ensembl |
|
rs1431367181 CA344400817 |
369 | C>F | No |
ClinGen gnomAD |
|
rs1558609008 CA344400623 |
376 | Q>H | No |
ClinGen Ensembl |
|
CA1352911 rs759525072 |
377 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs767293836 CA1352909 |
380 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344400549 rs1413839970 |
380 | M>L | No |
ClinGen gnomAD |
|
CA344400547 rs1413839970 |
380 | M>V | No |
ClinGen gnomAD |
|
CA36432460 rs201516007 |
381 | Q>L | No |
ClinGen Ensembl |
|
rs146013414 CA1352907 |
382 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs993731260 CA36432444 |
386 | I>V | No |
ClinGen Ensembl |
|
COSM3400228 rs769627475 CA1352903 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs745365385 CA1352902 |
390 | R>H | No |
ClinGen ExAC |
|
CA344400312 rs1207400802 |
392 | E>K | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 393 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780756514 CA1352901 |
395 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1486137995 CA344400263 |
395 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs771282186 CA1352900 |
396 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747583589 CA1352899 |
396 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 398 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1352896 rs753118108 |
406 | M>T | No |
ClinGen ExAC gnomAD |
|
CA36432411 rs113866410 |
407 | N>S | No |
ClinGen Ensembl |
|
rs1325029055 CA344400057 |
408 | I>V | No |
ClinGen TOPMed |
|
CA1352895 rs200422779 |
410 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200422779 CA344400021 |
410 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1352893 rs753805870 |
411 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs761613180 CA1352891 |
415 | E>K | No |
ClinGen ExAC gnomAD |
|
CA344399967 rs751507782 |
416 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352890 rs751507782 |
416 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352889 rs764172291 |
417 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs555607162 CA1352888 |
418 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1420452874 CA344399920 |
423 | T>A | No |
ClinGen gnomAD |
|
CA1352886 rs201623661 |
425 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs373549849 CA1352885 |
425 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
CA36432383 rs143291000 |
426 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs1192786268 CA344399892 |
427 | M>I | No |
ClinGen TOPMed |
|
CA344399896 rs1206651907 |
427 | M>L | No |
ClinGen gnomAD |
|
CA1352884 rs775965428 |
427 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1206651907 CA344399897 |
427 | M>V | No |
ClinGen gnomAD |
|
rs770444659 CA1352883 |
429 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1242864938 CA344399866 |
431 | L>I | No |
ClinGen TOPMed |
|
CA1352882 rs35845538 VAR_057101 |
432 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1335302063 CA344399854 |
433 | D>Y | No |
ClinGen gnomAD |
|
CA36432373 rs896450048 |
434 | D>G | No |
ClinGen TOPMed |
|
rs1284474254 CA344399839 |
435 | A>S | No |
ClinGen Ensembl |
|
rs1384374915 CA344399835 |
436 | T>P | No |
ClinGen TOPMed |
|
rs1382148045 CA344399814 |
438 | M>I | No |
ClinGen TOPMed |
|
CA344399820 rs1164868921 |
438 | M>V | No |
ClinGen TOPMed |
|
CA344399798 rs1574765891 |
440 | F>L | No |
ClinGen Ensembl |
|
CA344399799 rs1574765901 |
440 | F>Y | No |
ClinGen Ensembl |
|
rs372309264 CA1352863 CA36430472 |
442 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772513231 CA1352862 |
443 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs962511873 CA36430464 |
444 | I>V | No |
ClinGen Ensembl |
|
CA344398136 rs1161630107 |
445 | V>A | No |
ClinGen gnomAD |
|
CA344398122 rs1218697094 |
446 | P>H | No |
ClinGen TOPMed |
|
rs1314157744 CA344398108 |
447 | E>V | No |
ClinGen TOPMed |
|
CA1352860 rs774542193 |
448 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352859 rs547036245 |
451 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344398065 rs547036245 |
451 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344398026 rs1458173300 |
454 | T>N | No |
ClinGen TOPMed |
|
CA344398008 rs1269330349 |
456 | E>K | No |
ClinGen gnomAD |
|
CA36430453 rs368372837 |
457 | I>L | No |
ClinGen ESP TOPMed |
|
CA1352858 rs749659998 |
458 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1191258180 CA344397954 |
459 | C>S | No |
ClinGen TOPMed |
|
CA1352856 rs756357681 |
460 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756357681 CA344397943 |
460 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1574760269 CA344397930 |
461 | I>V | No |
ClinGen Ensembl |
|
rs77626160 CA1352855 |
462 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758359517 CA1352853 COSM160606 |
462 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs752652454 CA1352852 |
463 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352851 rs765138099 |
466 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1293987261 CA344397810 |
469 | I>V | No |
ClinGen gnomAD |
|
rs754789156 CA1352850 |
470 | S>A | No |
ClinGen ExAC gnomAD |
|
rs753642939 CA1352849 |
471 | R>* | No |
ClinGen ExAC gnomAD |
|
CA1352848 rs774752814 |
471 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs760338678 CA1352847 |
473 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344397742 rs1375026344 |
475 | A>T | No |
ClinGen gnomAD |
|
rs1490416133 CA344397737 |
476 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA344397729 rs1174373891 |
477 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1435930346 CA344397725 |
478 | N>D | No |
ClinGen TOPMed |
|
CA344397713 rs768981307 CA1352846 |
478 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352845 rs569664059 |
479 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344397661 rs1277360285 |
481 | I>T | No |
ClinGen TOPMed |
|
CA344397650 rs1193715526 |
482 | S>G | No |
ClinGen gnomAD |
|
rs761350525 CA1352844 |
483 | S>P | No |
ClinGen ExAC gnomAD |
|
CA1352841 rs749656431 |
489 | E>G | No |
ClinGen ExAC gnomAD |
|
CA36430385 rs775721917 |
491 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1338551101 CA344397403 |
492 | V>F | No |
ClinGen gnomAD |
|
rs1338551101 CA344397408 |
492 | V>I | No |
ClinGen gnomAD |
|
rs746112821 CA1352838 |
493 | G>R | No |
ClinGen ExAC gnomAD |
|
rs757391925 CA344397338 |
497 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1298222441 CA344397328 |
498 | C>R | No |
ClinGen gnomAD |
|
CA344397321 rs1231802409 |
498 | C>S | No |
ClinGen gnomAD |
|
rs1313778082 CA344397200 |
501 | S>R | No |
ClinGen gnomAD |
|
CA36430337 rs945337205 |
506 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA344397117 rs1221671346 |
507 | D>N | No |
ClinGen TOPMed |
|
rs753615046 CA1352832 |
511 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1461439797 CA344397026 |
512 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA1352831 rs766114505 |
512 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344396975 rs1173265081 |
515 | N>D | No |
ClinGen TOPMed |
|
TCGA novel | 515 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 519 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1419096051 CA344396903 |
520 | I>M | No |
ClinGen gnomAD |
|
rs938263099 CA36429947 |
522 | N>H | No |
ClinGen TOPMed |
|
CA36429945 rs924344608 |
522 | N>S | No |
ClinGen TOPMed |
|
rs980098732 CA36429941 |
523 | A>D | No |
ClinGen TOPMed |
|
rs1468708162 CA344396884 |
524 | A>T | No |
ClinGen gnomAD |
|
CA344396866 rs1468409388 |
526 | H>R | No |
ClinGen gnomAD |
|
rs1274218234 CA344396856 |
528 | E>K | No |
ClinGen gnomAD |
|
rs968214720 CA36429935 |
530 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA1352815 rs768593687 |
534 | G>V | No |
ClinGen ExAC gnomAD |
|
rs749217494 CA1352814 |
535 | S>L | No |
ClinGen ExAC gnomAD |
|
rs749217494 CA344396806 |
535 | S>W | No |
ClinGen ExAC gnomAD |
|
CA344396788 rs1438688041 |
538 | T>R | No |
ClinGen gnomAD |
|
CA344396791 rs1301300372 |
538 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA344396778 rs1326373319 |
540 | M>L | No |
ClinGen gnomAD |
|
rs780814100 CA1352810 |
543 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1382347371 CA344396749 |
544 | Q>E | No |
ClinGen gnomAD |
|
CA344396743 rs756860232 |
544 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352808 rs374006516 |
545 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1453965633 CA344396741 |
545 | I>V | No |
ClinGen gnomAD |
|
CA1352806 rs763475713 |
546 | K>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 548 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs562238251 CA1352788 |
551 | R>C | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs765772515 CA1352787 |
551 | R>H | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1280827353 CA344396083 |
554 | W>C | No |
ClinGen gnomAD |
|
rs1574758047 CA344396052 |
556 | S>T | No |
ClinGen Ensembl |
|
rs1337306925 CA344396010 |
558 | P>T | No |
ClinGen gnomAD |
|
CA36429686 rs1035543596 |
559 | A>V | No |
ClinGen TOPMed |
|
CA1352781 rs767835099 |
560 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1342003682 CA344395962 |
561 | T>S | No |
ClinGen gnomAD |
|
rs1413785229 CA344395950 |
562 | L>R | No |
ClinGen gnomAD |
|
CA344395952 rs1260712966 |
562 | L>V | No |
ClinGen TOPMed |
|
CA1352780 rs761791404 |
563 | E>V | No |
ClinGen ExAC gnomAD |
|
rs267598326 CA36429660 |
564 | W>* | No |
ClinGen Ensembl |
|
CA36429664 rs1042893909 |
564 | W>R | No |
ClinGen Ensembl |
|
CA344395884 rs1335596582 |
566 | R>T | No |
ClinGen gnomAD |
|
CA344395872 rs1477353702 |
567 | K>R | No |
ClinGen TOPMed |
|
CA344395858 rs1574757974 |
568 | V>G | No |
ClinGen Ensembl |
|
CA1352779 rs774414868 |
568 | V>M | No |
ClinGen ExAC gnomAD |
|
CA344395838 rs1168860531 |
570 | Q>R | No |
ClinGen gnomAD |
|
CA1352776 rs776370465 |
571 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1171117102 CA344395777 |
577 | S>R | No |
ClinGen TOPMed |
|
CA344395766 rs147190858 |
577 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA344395771 rs1374715401 |
577 | S>T | No |
ClinGen TOPMed |
|
rs368970750 CA1352774 |
578 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1239304396 CA344395722 |
580 | K>R | No |
ClinGen gnomAD |
|
CA344395707 rs1426115329 |
581 | L>S | No |
ClinGen TOPMed |
|
rs1450993604 CA344395696 |
582 | A>T | No |
ClinGen gnomAD |
|
rs374748923 CA36429623 |
584 | S>I | No |
ClinGen TOPMed |
|
rs374748923 CA344395663 |
584 | S>N | No |
ClinGen TOPMed |
|
CA1352771 rs747605096 |
585 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352769 CA344395611 rs755505835 |
587 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352770 rs374851853 |
587 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1352768 rs200985639 |
590 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1242711305 CA344395569 |
590 | R>W | No |
ClinGen TOPMed |
|
rs766961895 CA1352767 |
591 | T>S | No |
ClinGen ExAC gnomAD |
|
rs148048922 CA1352765 |
592 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1352762 rs774364049 |
593 | L>V | No |
ClinGen ExAC gnomAD |
|
CA344395521 rs1469321397 |
594 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1164595430 CA344395492 |
596 | S>C | No |
ClinGen gnomAD |
|
rs763059294 CA1352760 |
598 | E>K | No |
ClinGen ExAC gnomAD |
|
CA344395474 rs1558604299 |
599 | A>S | No |
ClinGen Ensembl |
|
CA36429594 rs867889224 |
601 | A>V | No |
ClinGen Ensembl |
|
CA344395451 rs1469742479 |
602 | A>V | No |
ClinGen gnomAD |
|
rs746717562 CA1352757 |
605 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352758 rs770969662 |
605 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1056550462 CA36429289 |
607 | L>P | No |
ClinGen Ensembl |
|
TCGA novel | 609 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774425962 CA1352731 |
612 | S>A | No |
ClinGen ExAC gnomAD |
|
COSM1338161 rs1361367833 CA344395329 |
613 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs1432881954 CA344395322 |
614 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1300122167 CA344395324 |
614 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA344395302 rs1394546989 |
616 | E>Q | No |
ClinGen gnomAD |
|
rs1175361060 CA344395288 |
617 | K>E | No |
ClinGen gnomAD |
|
rs1433674288 CA344395274 |
618 | T>A | No |
ClinGen gnomAD |
|
rs374722933 CA1352730 |
618 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344395248 rs1184514143 |
620 | D>G | No |
ClinGen gnomAD |
|
CA1352728 rs146470052 |
621 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344395237 rs1218322474 |
622 | W>R | No |
ClinGen gnomAD |
|
CA344395209 rs1278951872 |
624 | R>T | No |
ClinGen gnomAD |
|
CA1352726 rs758632426 |
624 | R>W | No |
ClinGen ExAC gnomAD |
|
CA344395195 rs1574756774 |
625 | V>G | No |
ClinGen Ensembl |
|
rs765391969 CA1352724 |
626 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA1352725 rs752673167 |
626 | R>W | No |
ClinGen ExAC gnomAD |
|
CA1352722 rs553241241 |
628 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1352721 COSM381767 rs767625627 |
632 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs535442055 CA1352720 |
632 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
rs535442055 CA36429256 |
632 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA344395098 rs1413164579 |
635 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA1352718 rs774289190 |
635 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344395065 rs1466513242 |
637 | S>C | No |
ClinGen gnomAD |
|
CA344395015 rs3851294 |
641 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1352715 rs769315184 |
641 | C>S | No |
ClinGen ExAC gnomAD |
|
CA344395019 rs3851294 |
641 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1352714 rs769315184 |
641 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA36429247 rs867832957 CA344394971 |
644 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1195447938 CA344394910 |
648 | L>I | No |
ClinGen gnomAD |
|
rs1474008259 CA344394901 |
649 | H>N | No |
ClinGen gnomAD |
|
COSM902733 rs142986970 CA1352712 |
650 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1352695 rs776132078 |
650 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344393990 rs1240442551 |
652 | P>R | No |
ClinGen gnomAD |
|
rs147872876 CA36425248 |
653 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
CA1352693 rs202155350 |
655 | G>A | No |
ClinGen ExAC gnomAD |
|
CA36425247 rs202155350 |
655 | G>E | No |
ClinGen ExAC gnomAD |
|
rs773749326 CA1352692 |
656 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1460909694 CA344393899 |
657 | E>Q | No |
ClinGen TOPMed |
|
rs779196153 CA1352690 |
658 | L>M | No |
ClinGen ExAC gnomAD |
|
rs779196153 CA1352689 |
658 | L>V | No |
ClinGen ExAC gnomAD |
|
CA344393848 rs1377499293 |
659 | G>S | No |
ClinGen gnomAD |
|
CA36425229 rs1035239987 |
660 | R>Q | No |
ClinGen gnomAD |
|
rs1438367933 CA344393793 |
661 | G>D | No |
ClinGen gnomAD |
|
rs1176355663 CA344393693 |
665 | V>A | No |
ClinGen TOPMed |
|
CA36425208 rs763603130 |
665 | V>M | No |
ClinGen TOPMed |
|
rs757218647 CA1352685 |
667 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1157465443 CA344393617 |
669 | C>S | No |
ClinGen gnomAD |
|
CA1352683 rs764174507 COSM1500784 |
671 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1412652553 CA344393537 |
672 | W>* | No |
ClinGen TOPMed |
|
CA344393518 rs1558603173 |
673 | G>V | No |
ClinGen Ensembl |
|
TCGA novel | 674 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA344393491 rs1192287690 |
676 | F>L | No |
ClinGen gnomAD |
|
CA344393488 rs1174145386 |
676 | F>Y | No |
ClinGen TOPMed |
|
rs893903495 CA36425189 |
686 | P>Q | No |
ClinGen Ensembl |
|
CA36425192 rs1011466766 |
686 | P>S | No |
ClinGen Ensembl |
|
CA344393360 rs1211919331 |
687 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs996851438 CA344393348 |
689 | K>E | No |
ClinGen gnomAD |
|
CA36425179 rs996851438 |
689 | K>Q | No |
ClinGen gnomAD |
|
rs776078988 CA1352678 |
690 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352679 rs759134097 |
690 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1311431922 CA344393326 |
692 | N>H | No |
ClinGen gnomAD |
|
TCGA novel | 700 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760228646 CA1352676 |
700 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1352654 rs201385262 |
705 | P>L | No |
ClinGen ExAC gnomAD |
|
CA36425038 rs386638725 |
708 | E>G | No |
ClinGen Ensembl |
|
TCGA novel | 708 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774733889 CA1352652 |
709 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA1352651 rs768868078 |
710 | L>S | No |
ClinGen ExAC gnomAD |
|
CA1352650 rs763457185 |
711 | V>L | No |
ClinGen ExAC gnomAD |
|
rs775839288 CA1352649 |
712 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344393061 rs775839288 |
712 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1202081281 CA344393064 |
712 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs775839288 CA344393060 |
712 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1553361152 CA1352647 |
714 | H>R | No |
ClinGen Ensembl |
|
CA36425012 rs1021595268 |
715 | G>V | No |
ClinGen Ensembl |
|
CA1352644 rs781144442 |
718 | I>T | No |
ClinGen ExAC gnomAD |
|
CA1352643 rs772006139 |
719 | D>N | No |
ClinGen ExAC gnomAD |
|
CA344393010 rs1574754904 |
720 | Y>C | No |
ClinGen Ensembl |
|
CA1352642 rs56147706 |
721 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs56147706 CA344393003 |
721 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344392996 rs1445207913 |
722 | Y>C | No |
ClinGen gnomAD |
|
rs759864299 CA36424982 |
722 | Y>H | No |
ClinGen gnomAD |
|
CA36424977 rs1028487563 |
723 | G>D | No |
ClinGen Ensembl |
|
CA1352641 rs778960139 |
726 | S>F | No |
ClinGen ExAC gnomAD |
|
CA1352640 rs754756694 |
728 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs901245072 CA36424972 |
728 | I>V | No |
ClinGen gnomAD |
|
rs1473192729 CA344392882 |
731 | L>V | No |
ClinGen gnomAD |
|
rs1364509918 CA344392858 |
732 | L>F | No |
ClinGen gnomAD |
|
CA344392839 rs373307614 |
733 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344392830 rs1321252578 |
733 | I>T | No |
ClinGen TOPMed |
|
CA1352639 rs373307614 |
733 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1185911384 CA344392788 |
735 | E>K | No |
ClinGen gnomAD |
|
CA344392777 rs1478080527 |
735 | E>V | No |
ClinGen gnomAD |
|
CA1352637 rs755781145 |
736 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs150778354 CA1352638 |
736 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA344392745 rs1266328227 |
737 | L>R | No |
ClinGen gnomAD |
|
CA344392735 rs1312260692 |
738 | H>Y | No |
ClinGen TOPMed |
|
rs114762711 CA1352636 |
739 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1352634 rs369367865 |
739 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs114762711 RCV000884972 CA1352635 |
739 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs764717592 CA1352632 |
740 | D>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 740 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764717592 CA1352633 |
740 | D>V | No |
ClinGen ExAC gnomAD |
|
rs763403873 CA1352631 |
741 | L>V | No |
ClinGen ExAC gnomAD |
|
CA344392666 rs1376723300 |
744 | G>R | No |
ClinGen gnomAD |
|
CA344392650 rs1328329928 |
746 | K>T | No |
ClinGen TOPMed |
|
rs1351795306 CA344392449 |
747 | A>V | No |
ClinGen gnomAD |
|
CA344392447 rs1296448824 |
748 | G>R | No |
ClinGen gnomAD |
|
CA344392391 rs1419228760 |
751 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs764628186 CA1352615 |
752 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 752 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1159249924 CA344392358 |
753 | T>A | No |
ClinGen gnomAD |
|
rs377161801 CA1352614 |
754 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770322382 CA36424122 |
754 | R>H | No |
ClinGen TOPMed |
|
rs770322382 CA344392325 |
754 | R>L | No |
ClinGen TOPMed |
|
rs377161801 CA344392346 |
754 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1466081008 CA344392212 |
760 | D>N | No |
ClinGen gnomAD |
|
CA36424101 rs991969050 |
762 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA344392158 rs1425760692 |
762 | V>L | No |
ClinGen gnomAD |
|
CA344392108 rs1478167886 |
764 | G>V | No |
ClinGen gnomAD |
|
CA1352611 rs760029067 |
766 | R>C | No |
ClinGen ExAC gnomAD |
|
CA1352610 rs776706190 |
766 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA1352609 rs142354055 |
767 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 768 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs372939615 CA1352608 |
771 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 772 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1480172950 CA344391943 |
774 | V>A | No |
ClinGen gnomAD |
|
rs1219457775 CA344391950 |
774 | V>I | No |
ClinGen gnomAD |
|
rs1310892104 CA344391936 |
775 | H>Y | No |
ClinGen gnomAD |
|
rs1301056685 CA344391916 |
776 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1370154947 CA344391868 |
778 | I>M | No |
ClinGen gnomAD |
|
rs755295780 CA1352594 |
785 | L>P | No |
ClinGen ExAC gnomAD |
|
CA1352592 rs143505952 |
786 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
rs760983218 CA1352591 |
787 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1318788375 CA344389861 |
789 | N>S | No |
ClinGen gnomAD |
|
CA1352589 COSM902729 rs767549596 |
790 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA1352588 rs761926928 |
791 | A>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 797 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA344389543 rs1302228692 |
806 | S>L | No |
ClinGen gnomAD |
|
rs1352073253 CA344389484 |
809 | I>T | No |
ClinGen TOPMed |
|
rs753459273 CA36421155 |
812 | T>R | No |
ClinGen Ensembl |
|
CA344389421 rs1255370566 |
814 | I>T | No |
ClinGen TOPMed |
|
CA344389405 rs1408049886 |
815 | H>R | No |
ClinGen gnomAD |
|
rs868788895 CA36421152 |
815 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA344389378 rs1345543736 |
816 | M>I | No |
ClinGen TOPMed |
|
CA36421148 rs937338803 |
817 | A>G | No |
ClinGen TOPMed |
|
rs1168194164 CA344389367 |
817 | A>T | No |
ClinGen gnomAD |
|
rs1464809227 CA344389319 |
819 | E>D | No |
ClinGen gnomAD |
|
CA1352586 rs769787380 |
821 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1482560374 CA344389253 |
823 | G>R | No |
ClinGen TOPMed |
|
TCGA novel | 826 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1488242858 CA344388832 |
829 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1352566 rs770728602 |
831 | V>L | No |
ClinGen ExAC gnomAD |
|
rs760444729 CA1352565 |
835 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1351574446 CA344388679 |
836 | I>V | No |
ClinGen gnomAD |
|
rs1307044878 CA344388658 |
837 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1352564 rs772993040 |
838 | F>L | No |
ClinGen ExAC gnomAD |
|
rs771853402 CA1352563 |
838 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA344388559 rs1308806650 |
840 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 841 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1352562 rs747601342 |
841 | I>V | No |
ClinGen ExAC gnomAD |
|
CA344388215 rs1415232470 |
854 | R>G | No |
ClinGen TOPMed |
|
rs371120241 CA36420083 |
855 | C>W | No |
ClinGen ESP TOPMed |
|
CA36420079 rs372521477 |
856 | A>P | No |
ClinGen ESP gnomAD |
|
rs369831159 CA36420078 |
857 | S>R | No |
ClinGen ESP TOPMed |
|
rs1280018637 CA344388053 |
859 | D>E | No |
ClinGen TOPMed |
|
CA1352558 rs749767038 |
860 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1440830714 CA344388017 |
861 | L>I | No |
ClinGen gnomAD |
|
CA36420069 rs910640618 |
864 | N>D | No |
ClinGen TOPMed |
|
CA344387925 rs1231350255 |
865 | V>G | No |
ClinGen TOPMed |
|
CA1352556 rs756492023 |
866 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780479792 CA1352557 |
866 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA1352555 rs750857653 |
868 | G>W | No |
ClinGen ExAC gnomAD |
|
CA1352532 rs145326928 |
870 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
CA1352531 rs752722650 |
870 | R>H | No |
ClinGen ExAC gnomAD |
|
CA36419637 rs752722650 |
870 | R>P | No |
ClinGen ExAC gnomAD |
|
rs766279464 CA1352530 |
873 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs368296430 CA1352529 |
873 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1344116407 CA344386843 |
878 | D>E | No |
ClinGen gnomAD |
|
CA344386861 rs1360129007 |
878 | D>N | No |
ClinGen TOPMed |
|
rs1263508189 CA344386833 |
879 | E>K | No |
ClinGen gnomAD |
|
rs1574742297 CA344386790 |
881 | C>G | No |
ClinGen Ensembl |
|
rs1315606984 CA344386781 |
881 | C>Y | No |
ClinGen gnomAD |
|
CA344386721 rs1574742288 |
883 | Q>H | No |
ClinGen Ensembl |
|
CA344386650 rs1430891769 |
887 | A>T | No |
ClinGen gnomAD |
|
rs1327649787 CA344386634 |
887 | A>V | No |
ClinGen gnomAD |
|
CA344386598 rs1395944229 |
889 | W>* | No |
ClinGen gnomAD |
|
rs1030585972 CA344386573 |
892 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA1352525 rs774043987 |
892 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1423121390 CA344386564 |
893 | P>L | No |
ClinGen gnomAD |
|
CA344386536 rs1171623752 |
896 | R>K | No |
ClinGen gnomAD |
|
CA344386531 rs1234713183 |
896 | R>S | No |
ClinGen gnomAD |
|
rs757807088 CA1352523 |
897 | P>S | No |
ClinGen ExAC gnomAD |
|
rs757807088 CA1352524 |
897 | P>T | No |
ClinGen ExAC gnomAD |
|
CA344386474 rs1369116923 |
902 | V>A | No |
ClinGen TOPMed |
|
rs1050984076 CA36419603 |
902 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs777163955 CA1352520 |
903 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs771263242 CA1352518 |
905 | M>I | No |
ClinGen ExAC gnomAD |
|
CA344386447 rs1456262397 |
905 | M>L | No |
ClinGen TOPMed gnomAD |
|
rs1257082245 CA344386443 |
905 | M>T | No |
ClinGen gnomAD |
|
rs562344996 CA1352517 |
906 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1352516 rs144574659 |
909 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs113459027 CA36419552 |
910 | M>T | No |
ClinGen Ensembl |
|
rs778888245 CA1352513 |
912 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA1352514 rs748208689 |
912 | R>W | No |
ClinGen ExAC gnomAD |
|
rs151054719 CA1352512 |
916 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1399986835 CA344386326 |
917 | N>D | No |
ClinGen gnomAD |
|
CA344386320 rs1329872732 |
917 | N>I | No |
ClinGen gnomAD |
|
CA344386310 rs1378866427 |
918 | S>C | No |
ClinGen gnomAD |
|
rs939944869 CA36419532 |
919 | E>Q | No |
ClinGen TOPMed |
|
rs1411730987 CA344386271 |
921 | P>R | No |
ClinGen gnomAD |
|
rs370809794 CA1352509 |
923 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs56379815 CA1352507 |
924 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1185317089 CA344386234 |
925 | L>V | No |
ClinGen gnomAD |
|
CA344386222 rs1402750151 |
926 | D>G | No |
ClinGen gnomAD |
|
rs148542303 CA344386227 |
926 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1352506 rs148542303 RCV001859106 RCV001171330 |
926 | D>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1237330551 CA344386214 |
927 | D>N | No |
ClinGen gnomAD |
|
rs141793968 CA1352505 |
927 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344386212 rs1237330551 |
927 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs146033090 CA1352504 |
928 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs764696869 CA1352503 |
929 | T>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6XUX3
4 regional properties for Q6XUX3
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 33 - 293 | IPR000719 |
active_site | Serine/threonine-protein kinase, active site | 154 - 166 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 39 - 62 | IPR017441 |
domain | Serine/threonine-protein kinase 17B, catalytic domain | 24 - 293 | IPR042763 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.12.1 | Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
4 GO annotations of cellular component
Name | Definition |
---|---|
anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
5 GO annotations of biological process
Name | Definition |
---|---|
cellular response to fibroblast growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an fibroblast growth factor stimulus. |
negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
positive regulation of fibroblast growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity. |
positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
37 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A2VDU3 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Bos taurus (Bovine) | SS |
Q3SZJ2 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Bos taurus (Bovine) | PR |
Q4TVR5 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Bos taurus (Bovine) | PR |
Q6XUX0 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Gallus gallus (Chicken) | PR |
P83104 | Takl1 | Putative mitogen-activated protein kinase kinase kinase 7-like | Drosophila melanogaster (Fruit fly) | PR |
Q95UN8 | slpr | Mitogen-activated protein kinase kinase kinase | Drosophila melanogaster (Fruit fly) | EV |
O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
Q16584 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 | Homo sapiens (Human) | EV |
P00540 | MOS | Proto-oncogene serine/threonine-protein kinase mos | Homo sapiens (Human) | PR |
Q5TCX8 | MAP3K21 | Mitogen-activated protein kinase kinase kinase 21 | Homo sapiens (Human) | PR |
O43318 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Homo sapiens (Human) | SS |
Q9NYL2 | MAP3K20 | Mitogen-activated protein kinase kinase kinase 20 | Homo sapiens (Human) | PR |
Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
Q80XI6 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Mus musculus (Mouse) | PR |
Q8VDG6 | Map3k21 | Mitogen-activated protein kinase kinase kinase 21 | Mus musculus (Mouse) | PR |
P58801 | Ripk2 | Receptor-interacting serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
Q62073 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Mus musculus (Mouse) | EV |
Q3U1V8 | Map3k9 | Mitogen-activated protein kinase kinase kinase 9 | Mus musculus (Mouse) | SS |
Q9D2Y4 | Mlkl | Mixed lineage kinase domain-like protein | Mus musculus (Mouse) | SS |
Q9ESL4 | Map3k20 | Mitogen-activated protein kinase kinase kinase 20 | Mus musculus (Mouse) | PR |
P00536 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Mus musculus (Mouse) | PR |
Q66L42 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Mus musculus (Mouse) | SS |
P0C8E4 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Rattus norvegicus (Rat) | SS |
Q66HA1 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Rattus norvegicus (Rat) | PR |
D3ZG83 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Rattus norvegicus (Rat) | SS |
P00539 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Rattus norvegicus (Rat) | PR |
Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q67E00 | dstyk | Dual serine/threonine and tyrosine protein kinase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEGDGVPWGS | EPVSGPGPGG | GGMIRELCRG | FGRYRRYLGR | LRQNLRETQK | FFRDIKCSHN |
70 | 80 | 90 | 100 | 110 | 120 |
HTCLSSLTGG | GGAERGPAGD | VAETGLQAGQ | LSCISFPPKE | EKYLQQIVDC | LPCILILGQD |
130 | 140 | 150 | 160 | 170 | 180 |
CNVKCQLLNL | LLGVQVLPTT | KLGSEESCKL | RRLRFTYGTQ | TRVSLALPGQ | YELVHTLVAH |
190 | 200 | 210 | 220 | 230 | 240 |
QGNWETIPEE | DLEVQENNED | AAHVLAELEV | TMHHALLQEV | DVVVAPCQGL | RPTVDVLGDL |
250 | 260 | 270 | 280 | 290 | 300 |
VNDFLPVITY | ALHKDELSER | DEQELQEIRK | YFSFPVFFFK | VPKLGSEIID | SSTRRMESER |
310 | 320 | 330 | 340 | 350 | 360 |
SPLYRQLIDL | GYLSSSHWNC | GAPGQDTKAQ | SMLVEQSEKL | RHLSTFSHQV | LQTRLVDAAK |
370 | 380 | 390 | 400 | 410 | 420 |
ALNLVHCHCL | DIFINQAFDM | QRDLQITPKR | LEYTRKKENE | LYESLMNIAN | RKQEEMKDMI |
430 | 440 | 450 | 460 | 470 | 480 |
VETLNTMKEE | LLDDATNMEF | KDVIVPENGE | PVGTREIKCC | IRQIQELIIS | RLNQAVANKL |
490 | 500 | 510 | 520 | 530 | 540 |
ISSVDYLRES | FVGTLERCLQ | SLEKSQDVSV | HITSNYLKQI | LNAAYHVEVT | FHSGSSVTRM |
550 | 560 | 570 | 580 | 590 | 600 |
LWEQIKQIIQ | RITWVSPPAI | TLEWKRKVAQ | EAIESLSASK | LAKSICSQFR | TRLNSSHEAF |
610 | 620 | 630 | 640 | 650 | 660 |
AASLRQLEAG | HSGRLEKTED | LWLRVRKDHA | PRLARLSLES | CSLQDVLLHR | KPKLGQELGR |
670 | 680 | 690 | 700 | 710 | 720 |
GQYGVVYLCD | NWGGHFPCAL | KSVVPPDEKH | WNDLALEFHY | MRSLPKHERL | VDLHGSVIDY |
730 | 740 | 750 | 760 | 770 | 780 |
NYGGGSSIAV | LLIMERLHRD | LYTGLKAGLT | LETRLQIALD | VVEGIRFLHS | QGLVHRDIKL |
790 | 800 | 810 | 820 | 830 | 840 |
KNVLLDKQNR | AKITDLGFCK | PEAMMSGSIV | GTPIHMAPEL | FTGKYDNSVD | VYAFGILFWY |
850 | 860 | 870 | 880 | 890 | 900 |
ICSGSVKLPE | AFERCASKDH | LWNNVRRGAR | PERLPVFDEE | CWQLMEACWD | GDPLKRPLLG |
910 | 920 | ||||
IVQPMLQGIM | NRLCKSNSEQ | PNRGLDDST |