Q9UQ88
Gene name |
CDK11A (CDC2L2, CDC2L3, PITSLREB) |
Protein name |
Cyclin-dependent kinase 11A |
Names |
Cell division cycle 2-like protein kinase 2, Cell division protein kinase 11A, Galactosyltransferase-associated protein kinase p58/GTA, PITSLRE serine/threonine-protein kinase CDC2L2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:728642 |
EC number |
2.7.11.22: Protein-serine/threonine kinases |
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
567-590 (Activation loop from InterPro)
Target domain |
426-711 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

1 structures for Q9UQ88
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9UQ88-F1 | Predicted | AlphaFoldDB |
739 variants for Q9UQ88
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV002558699 CA337900554 rs1266756785 RCV001170012 |
237 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
CA337913534 rs1354648264 |
3 | D>G | No |
ClinGen gnomAD |
|
CA337913339 rs1330444521 |
9 | K>T | No |
ClinGen gnomAD |
|
rs1453588821 CA337913320 |
10 | V>L | No |
ClinGen TOPMed |
|
rs941786604 CA16813391 |
11 | K>R | No |
ClinGen TOPMed |
|
rs1335016170 CA337913236 |
12 | T>N | No |
ClinGen TOPMed |
|
rs1458606649 CA337913204 |
13 | L>F | No |
ClinGen TOPMed |
|
CA337913212 rs1170346043 |
13 | L>S | No |
ClinGen gnomAD |
|
CA337913187 rs1570446043 |
14 | D>G | No |
ClinGen Ensembl |
|
rs1475774736 CA337913192 |
14 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA337913176 rs1416585950 |
15 | E>K | No |
ClinGen gnomAD |
|
rs775588540 CA530823 |
16 | I>V | No |
ClinGen ExAC gnomAD |
|
CA337913127 rs1472497465 |
17 | L>P | No |
ClinGen gnomAD |
|
rs1233480421 CA337912971 |
22 | R>Q | No |
ClinGen gnomAD |
|
rs571630372 CA530822 |
23 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA337912962 rs1206751059 |
23 | R>W | No |
ClinGen gnomAD |
|
CA337912917 rs1456558990 |
25 | E>K | No |
ClinGen gnomAD |
|
CA16813377 rs908901739 |
26 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA337912880 rs1557804825 |
27 | E>K | No |
ClinGen Ensembl |
|
rs1336755741 CA337912784 |
29 | K>I | No |
ClinGen gnomAD |
|
CA530817 rs376961550 |
34 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
rs1280722947 CA337912666 |
34 | R>H | No |
ClinGen gnomAD |
|
rs1280722947 CA337912669 |
34 | R>P | No |
ClinGen gnomAD |
|
rs1240882997 CA337912633 |
35 | L>F | No |
ClinGen TOPMed |
|
CA337912630 rs1399083735 |
36 | K>E | No |
ClinGen gnomAD |
|
rs767014805 | 37 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA337912560 rs1462264338 |
37 | N>I | No |
ClinGen gnomAD |
|
CA337912566 rs1462264338 |
37 | N>T | No |
ClinGen gnomAD |
|
rs762879797 CA530767 |
38 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337912072 rs1400220521 |
40 | D>E | No |
ClinGen gnomAD |
|
rs1187357536 CA337912088 |
40 | D>H | No |
ClinGen gnomAD |
|
CA337912086 rs1187357536 |
40 | D>Y | No |
ClinGen gnomAD |
|
CA530765 rs200953503 |
41 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776650584 CA530766 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337912056 rs1232444133 |
42 | D>H | No |
ClinGen TOPMed |
|
CA337912000 rs760857763 |
44 | K>N | No |
ClinGen ExAC gnomAD |
|
rs748452843 CA530761 |
45 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530762 rs748452843 |
45 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs540105321 CA530763 |
45 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1418476394 CA337911945 |
49 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1418476394 CA337911941 COSM48277 |
49 | E>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA530757 rs372225055 CA337911899 |
50 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA530754 rs188565066 |
51 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA530755 rs181359165 CA530756 |
51 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1195904652 CA337911869 |
52 | E>G | No |
ClinGen gnomAD |
|
rs1059832 CA530750 |
57 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1059832 CA530751 VAR_060152 |
57 | C>R | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA530749 rs763905836 |
57 | C>S | No |
ClinGen ExAC gnomAD |
|
rs1419820840 CA337911775 |
58 | M>V | No |
ClinGen TOPMed |
|
rs1570441471 CA337911738 |
59 | E>D | No |
ClinGen Ensembl |
|
rs1177013253 CA337911729 |
60 | I>L | No |
ClinGen TOPMed |
|
rs1462432910 CA337911698 |
62 | I>L | No |
ClinGen TOPMed |
|
rs1570441450 CA337911695 |
62 | I>R | No |
ClinGen Ensembl |
|
CA16812465 rs565553918 |
64 | N>K | No |
ClinGen ExAC gnomAD |
|
CA530747 rs368753784 |
66 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368753784 CA530746 |
66 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1247569295 CA337911628 |
66 | P>S | No |
ClinGen gnomAD |
|
rs201926274 CA16812436 |
67 | Y>* | No |
ClinGen TOPMed gnomAD |
|
CA530744 rs773403139 |
67 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA337911595 rs1329634414 |
68 | R>K | No |
ClinGen gnomAD |
|
TCGA novel | 70 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs370759338 CA530743 |
72 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1164804426 CA337911522 |
72 | S>P | No |
ClinGen gnomAD |
|
rs774820411 CA530741 |
73 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337911461 rs1441078198 |
75 | D>G | No |
ClinGen gnomAD |
|
rs770617385 CA16812415 |
76 | R>K | No |
ClinGen TOPMed |
|
rs770617385 CA337911432 |
76 | R>T | No |
ClinGen TOPMed |
|
rs771649177 CA530689 |
77 | G>R | No |
ClinGen ExAC gnomAD |
|
rs747870830 CA530688 |
77 | G>V | No |
ClinGen ExAC gnomAD |
|
CA530684 rs749100082 |
79 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530683 rs201091435 |
79 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749100082 CA337909462 |
79 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 80 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs756131673 CA530682 |
80 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1274366317 CA337909432 |
80 | D>V | No |
ClinGen TOPMed |
|
TCGA novel | 81 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1354369436 CA337909427 |
81 | D>N | No |
ClinGen TOPMed |
|
CA337909340 rs1360434615 |
84 | A>G | No |
ClinGen gnomAD |
|
CA530678 rs201674700 |
85 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1570432368 CA337909318 |
86 | K>E | No |
ClinGen Ensembl |
|
rs758644941 CA337909313 |
86 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758644941 CA530677 |
86 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337909296 rs1171761951 |
87 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs752941599 CA530676 |
87 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1193639926 CA337909252 |
90 | Q>* | No |
ClinGen gnomAD |
|
CA337909205 rs1442908347 |
91 | M>I | No |
ClinGen TOPMed |
|
CA530672 rs766815750 |
91 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1239244294 CA337909222 |
91 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA337909180 rs1414398401 |
92 | S>F | No |
ClinGen TOPMed gnomAD |
|
VAR_062200 rs7531938 |
92 | S>P | No |
UniProt dbSNP |
|
rs1059831 CA337909175 |
93 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA530670 rs200755605 |
93 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_031716 VAR_057775 CA530671 rs1059831 |
93 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA337909123 rs1315882882 |
95 | E>D | No |
ClinGen gnomAD |
|
rs201838992 CA530668 |
96 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs72909030 CA530667 |
97 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA337909079 rs1187002514 |
98 | H>N | No |
ClinGen TOPMed |
|
rs768246706 CA530666 |
99 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs542603674 CA530664 |
100 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 100 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 100 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs769812604 CA530662 |
101 | K>R | No |
ClinGen ExAC gnomAD |
|
CA16808439 rs1028111893 |
104 | K>* | No |
ClinGen TOPMed |
|
CA530661 rs745820114 |
104 | K>R | No |
ClinGen ExAC gnomAD |
|
CA337908883 rs1398497577 |
105 | R>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 105 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA337908867 rs1406393010 |
106 | K>E | No |
ClinGen gnomAD |
|
rs752787794 CA530658 |
106 | K>N | No |
ClinGen ExAC gnomAD |
|
CA337908864 rs1416608708 |
106 | K>R | No |
ClinGen gnomAD |
|
COSM1335926 CA337908851 rs1238991773 |
107 | E>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs779182274 CA530657 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
CA16808408 rs201592416 |
108 | K>E | No |
ClinGen 1000Genomes |
|
rs746108190 CA530591 |
109 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1059830 VAR_062199 CA530655 |
109 | W>C | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA337906176 rs1431466897 |
110 | K>* | No |
ClinGen gnomAD |
|
CA337906163 rs1557794280 |
110 | K>N | No |
ClinGen Ensembl |
|
rs771167585 CA530590 |
111 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1203428468 CA337906059 |
113 | R>T | No |
ClinGen gnomAD |
|
rs112748730 CA530588 |
114 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA16805144 rs112748730 |
114 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs112748730 CA337906034 |
114 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs778129644 CA530585 |
117 | R>G | No |
ClinGen ExAC gnomAD |
|
CA16805111 rs200224067 |
117 | R>K | No |
ClinGen Ensembl |
|
rs200224067 CA337905940 |
117 | R>T | No |
ClinGen Ensembl |
|
rs752188532 CA530579 |
118 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1557794182 CA337905913 |
118 | E>Q | No |
ClinGen Ensembl |
|
rs754630865 CA530577 |
119 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA337905860 rs1336369850 |
120 | E>K | No |
ClinGen gnomAD |
|
rs1336369850 CA337905858 |
120 | E>Q | No |
ClinGen gnomAD |
|
CA530575 rs371899640 |
121 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766098874 CA530574 |
121 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs750242434 CA530572 |
122 | R>Q | Variant assessed as Somatic; 4.824e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs760387372 CA530573 |
122 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1368996807 CA337905780 |
123 | K>E | No |
ClinGen gnomAD |
|
TCGA novel CA530571 rs767371982 |
123 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
CA337905766 rs1189000654 |
123 | K>R | No |
ClinGen gnomAD |
|
rs199510897 CA530570 |
124 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA530568 rs374642406 |
124 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1274179044 CA337905711 |
125 | H>L | No |
ClinGen TOPMed gnomAD |
|
rs1274179044 CA337905713 |
125 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1240371604 CA337905701 |
126 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs776712506 CA530566 |
126 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA337905648 rs1266617537 |
127 | E>* | No |
ClinGen gnomAD |
|
CA530564 rs747279722 |
127 | E>G | No |
ClinGen ExAC gnomAD |
|
CA337905637 rs747279722 |
127 | E>V | No |
ClinGen ExAC gnomAD |
|
CA530563 rs570927461 |
128 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA530561 rs772669213 |
128 | E>D | No |
ClinGen ExAC gnomAD |
|
CA337905622 rs570927461 |
128 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201054761 CA530560 |
129 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA530559 rs527915790 |
129 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1328970747 CA337905544 |
130 | D>G | No |
ClinGen gnomAD |
|
CA337905551 rs1570415127 |
130 | D>N | No |
ClinGen Ensembl |
|
CA530558 rs754510372 |
131 | K>E | No |
ClinGen ExAC gnomAD |
|
CA337905493 rs1164971376 |
132 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA530557 rs753458825 |
133 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337905482 rs753458825 |
133 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370418133 CA530555 |
133 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
rs370418133 CA530556 |
133 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
CA530551 COSM530211 rs751465521 |
134 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA530552 rs200272503 |
134 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA337905457 rs542594220 |
135 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA530550 rs542594220 |
135 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759520770 CA530549 |
139 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA337905339 rs1361632246 |
139 | Q>R | No |
ClinGen TOPMed |
|
rs1354892963 CA337905305 |
140 | K>N | No |
ClinGen gnomAD |
|
rs776785110 CA530548 |
142 | R>G | No |
ClinGen ExAC |
|
rs1387090217 CA337905272 |
142 | R>K | No |
ClinGen TOPMed |
|
CA530546 rs760989414 |
142 | R>S | No |
ClinGen ExAC gnomAD |
|
CA337905247 rs1291051298 |
143 | E>G | No |
ClinGen gnomAD |
|
rs748566008 CA530542 |
144 | M>I | No |
ClinGen ExAC gnomAD |
|
CA530543 rs772544700 |
144 | M>T | No |
ClinGen ExAC |
|
rs769348783 CA337905203 |
145 | A>P | No |
ClinGen ExAC gnomAD |
|
rs769348783 CA530540 |
145 | A>S | No |
ClinGen ExAC gnomAD |
|
rs769348783 CA530541 |
145 | A>T | No |
ClinGen ExAC gnomAD |
|
rs748675685 CA530539 |
147 | E>K | No |
ClinGen ExAC gnomAD |
|
CA337905145 rs1331517082 |
148 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA530537 rs779642694 |
149 | S>C | No |
ClinGen ExAC gnomAD |
|
rs755670050 CA530536 |
150 | R>W | No |
ClinGen ExAC gnomAD |
|
CA530535 COSM424451 rs745508835 |
151 | R>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs531731523 CA530534 |
152 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA530532 rs751412468 |
153 | R>K | No |
ClinGen ExAC |
|
rs757040406 CA337905019 |
153 | R>W | No |
ClinGen ExAC gnomAD |
|
CA337902786 rs1341885919 |
154 | D>Y | No |
ClinGen gnomAD |
|
rs1269187569 CA337902771 |
155 | R>H | No |
ClinGen TOPMed |
|
rs1334325365 CA337902753 |
156 | L>M | No |
ClinGen gnomAD |
|
TCGA novel | 157 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA337902681 rs1405746010 |
158 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1334364056 CA337902625 |
160 | E>G | No |
ClinGen gnomAD |
|
rs1412068441 CA337902608 |
162 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1228954480 CA337902593 |
163 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA337902570 rs1282580888 |
165 | R>P | No |
ClinGen TOPMed |
|
TCGA novel | 165 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1230259082 CA337902548 |
167 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA337902526 rs1570402181 |
169 | M>R | No |
ClinGen Ensembl |
|
rs1570402181 CA337902525 |
169 | M>T | No |
ClinGen Ensembl |
|
CA337902511 rs1181927810 |
171 | E>K | No |
ClinGen gnomAD |
|
CA337902485 rs1411013842 |
172 | Q>H | No |
ClinGen TOPMed |
|
rs750591753 CA530506 |
174 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1247076120 CA337902442 |
176 | Q>E | No |
ClinGen TOPMed |
|
rs1188306273 CA337902437 |
176 | Q>H | No |
ClinGen TOPMed |
|
rs1557789975 CA337902431 |
177 | R>L | No |
ClinGen Ensembl |
|
CA337902432 rs1557789975 |
177 | R>P | No |
ClinGen Ensembl |
|
TCGA novel | 177 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 177 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA337902420 rs1461065468 |
179 | Q>* | No |
ClinGen gnomAD |
|
CA16802379 rs1055464360 |
179 | Q>H | No |
ClinGen TOPMed |
|
rs1230752100 CA337902399 |
182 | R>C | No |
ClinGen TOPMed |
|
rs1272281807 CA337902393 |
183 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA337902383 rs1228359722 |
184 | R>Q | No |
ClinGen gnomAD |
|
CA530502 rs762135149 |
185 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA530503 rs767793604 |
185 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs751920527 CA337902373 |
186 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530501 rs751920527 |
186 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA16802302 rs925624781 |
187 | E>K | No |
ClinGen TOPMed |
|
CA337902355 rs1353236141 |
189 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs1353236141 CA337902354 |
189 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs55710038 CA530499 |
189 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337902353 rs1406484736 |
190 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA337902346 rs1488421089 |
191 | K>E | No |
ClinGen TOPMed |
|
rs1245529748 CA337902328 |
192 | E>D | No |
ClinGen TOPMed |
|
rs1207364443 CA337902321 |
193 | R>Q | No |
ClinGen TOPMed |
|
rs1570401705 CA337902301 |
194 | E>D | No |
ClinGen Ensembl |
|
rs776054548 CA530497 |
194 | E>Q | No |
ClinGen ExAC |
|
CA337902298 rs1274108260 |
195 | A>P | No |
ClinGen TOPMed |
|
CA337902291 rs1161756757 |
196 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1161756757 CA337902287 |
196 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA337902285 rs1444178149 |
196 | R>H | No |
ClinGen gnomAD |
|
CA337901287 rs1311052934 |
205 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1490232127 CA337901282 |
205 | T>M | No |
ClinGen TOPMed |
|
CA337901275 rs1206359070 |
206 | M>T | No |
ClinGen TOPMed |
|
CA337901215 rs1307918312 |
208 | E>K | No |
ClinGen TOPMed |
|
CA337901194 rs1294744304 |
209 | D>N | No |
ClinGen TOPMed |
|
CA16801024 rs891480900 |
212 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1437729580 CA337901090 |
214 | V>M | No |
ClinGen gnomAD |
|
rs1040708957 CA16801014 |
221 | R>C | No |
ClinGen TOPMed |
|
rs1343180348 CA337900917 |
221 | R>H | No |
ClinGen TOPMed |
|
rs1463835927 CA337900884 |
223 | P>L | No |
ClinGen TOPMed |
|
CA337900886 rs1463835927 |
223 | P>R | No |
ClinGen TOPMed |
|
rs1368021068 CA337900858 |
224 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1432103614 CA337900843 |
225 | R>Q | No |
ClinGen TOPMed |
|
rs1301361553 CA337900850 |
225 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA337900820 rs1424177444 |
226 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA337900809 rs1480191273 |
227 | P>L | No |
ClinGen TOPMed |
|
CA337900794 rs1250513699 |
228 | R>Q | No |
ClinGen TOPMed |
|
CA337900803 rs1161614230 |
228 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1008486738 CA16801009 |
229 | E>K | No |
ClinGen TOPMed |
|
rs1263682242 CA337900765 |
230 | R>W | No |
ClinGen TOPMed |
|
rs1320871880 CA337900671 |
232 | E>D | No |
ClinGen TOPMed |
|
CA337900607 rs1222019469 |
235 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1481343352 CA337900558 |
237 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1488360165 CA337900362 |
244 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA337900375 rs1445034413 |
244 | P>S | No |
ClinGen TOPMed |
|
CA337900348 rs1213164004 |
245 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA337900286 rs1161418073 |
247 | A>T | No |
ClinGen TOPMed |
|
CA16800989 rs890008305 |
247 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1315974039 CA337900139 |
251 | A>S | No |
ClinGen gnomAD |
|
rs1220237262 CA337900115 |
252 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs1277948827 CA337899886 |
258 | M>V | No |
ClinGen TOPMed |
|
CA16800943 rs927269372 |
261 | R>G | No |
ClinGen TOPMed |
|
CA337899802 rs1217564238 |
261 | R>K | No |
ClinGen TOPMed |
|
CA337899704 rs1478125717 |
266 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA337899679 rs1331559311 |
267 | L>V | No |
ClinGen TOPMed |
|
rs980406230 CA16800942 |
269 | D>N | No |
ClinGen TOPMed |
|
CA337899587 rs1263142000 |
273 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs776132018 CA530494 |
274 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337899526 rs1185837145 |
279 | S>A | No |
ClinGen TOPMed |
|
rs1445709410 CA337899523 |
279 | S>L | No |
ClinGen TOPMed |
|
CA337899512 rs1216211749 |
281 | E>G | No |
ClinGen TOPMed |
|
CA337899516 rs1256296540 |
281 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA337899506 rs1351817323 |
282 | S>A | No |
ClinGen TOPMed |
|
CA337899499 rs1204682787 |
283 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs955735593 CA16800926 |
285 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1349702156 CA337899449 |
288 | G>R | No |
ClinGen TOPMed |
|
rs1387516478 CA337899433 |
290 | G>R | No |
ClinGen Ensembl |
|
CA337899400 rs1570394254 |
293 | E>* | No |
ClinGen Ensembl |
|
rs1203445518 CA337899300 |
300 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs1340663875 CA337899288 |
301 | E>K | No |
ClinGen gnomAD |
|
rs1283488017 CA337899230 |
305 | G>E | No |
ClinGen TOPMed |
|
rs1216243441 CA337899237 |
305 | G>R | No |
ClinGen TOPMed |
|
rs1570394080 CA337899212 |
307 | T>P | No |
ClinGen Ensembl |
|
CA337899207 rs1365073858 |
308 | S>G | No |
ClinGen TOPMed |
|
CA337899205 rs1292086594 |
308 | S>N | No |
ClinGen TOPMed |
|
CA337899131 rs1570393993 |
314 | E>A | No |
ClinGen Ensembl |
|
CA337899072 rs1237475804 |
318 | E>G | No |
ClinGen TOPMed |
|
rs1480871142 CA337899076 |
318 | E>K | No |
ClinGen TOPMed |
|
rs1480871142 CA337899075 |
318 | E>Q | No |
ClinGen TOPMed |
|
CA337899046 rs1308779493 |
320 | E>D | No |
ClinGen TOPMed |
|
rs1225816713 CA337899038 |
321 | E>K | No |
ClinGen TOPMed |
|
CA337899005 rs1570393790 |
323 | E>G | No |
ClinGen Ensembl |
|
rs1335822527 CA337898972 |
325 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1570393724 CA337898979 |
325 | T>P | No |
ClinGen Ensembl |
|
CA337898973 rs1335822527 |
325 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA337898967 rs1398501175 |
326 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA337898958 rs1199383037 |
326 | G>V | No |
ClinGen TOPMed |
|
CA337898933 rs1482021433 |
328 | N>K | No |
ClinGen TOPMed |
|
CA337898926 rs1262100342 |
329 | S>F | No |
ClinGen TOPMed |
|
CA337898892 rs1296427701 |
332 | A>S | No |
ClinGen gnomAD |
|
rs1352557603 CA337898883 |
333 | S>A | No |
ClinGen TOPMed |
|
CA337898870 rs1570393619 |
334 | E>A | No |
ClinGen Ensembl |
|
CA16800891 rs1007932284 |
335 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA337898852 rs1314140565 |
336 | S>A | No |
ClinGen TOPMed |
|
rs1461444530 CA337898843 |
336 | S>F | No |
ClinGen gnomAD |
|
CA337898750 rs1487770188 |
339 | E>V | No |
ClinGen TOPMed |
|
CA337898732 rs1476273744 |
341 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA337898730 rs1346066075 |
341 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA337898717 rs1489750510 |
342 | E>* | No |
ClinGen TOPMed |
|
rs554157354 CA337898707 |
342 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
rs1344270166 CA337898706 |
343 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs898705920 CA16800563 |
346 | S>G | No |
ClinGen TOPMed |
|
CA530470 rs768661904 |
346 | S>T | No |
ClinGen ExAC gnomAD |
|
CA530469 rs749210532 |
348 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530468 rs780192737 |
350 | E>K | No |
ClinGen ExAC gnomAD |
|
CA337898619 rs1453543330 |
351 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA530467 rs757402171 |
351 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530466 rs751757795 |
353 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337898588 rs1391349555 |
354 | E>K | No |
ClinGen TOPMed |
|
CA337898576 rs1268192880 |
355 | N>D | No |
ClinGen gnomAD |
|
CA337898564 rs1570390581 |
356 | H>P | No |
ClinGen Ensembl |
|
CA16800513 rs1015789392 |
357 | L>P | No |
ClinGen TOPMed |
|
rs1448946553 CA337898539 |
358 | L>W | No |
ClinGen gnomAD |
|
TCGA novel | 360 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754265806 CA530439 |
361 | P>S | No |
ClinGen ExAC gnomAD |
|
CA337897808 rs1185237764 |
362 | E>K | No |
ClinGen TOPMed |
|
rs766803346 CA530438 |
363 | S>* | No |
ClinGen ExAC gnomAD |
|
rs766803346 CA337897775 |
363 | S>L | No |
ClinGen ExAC gnomAD |
|
rs756623988 CA530437 |
364 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1233263675 CA337897772 |
364 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA530435 rs766962720 |
366 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1361149658 CA337897694 |
367 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs1361149658 CA337897703 |
367 | R>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 367 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA530434 rs773866402 |
367 | R>P | No |
ClinGen ExAC gnomAD |
|
rs773866402 CA530433 |
367 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA530431 rs762772162 |
368 | D>G | No |
ClinGen ExAC gnomAD |
|
rs6658335 CA530428 |
370 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1353328925 CA337897584 |
370 | G>V | No |
ClinGen gnomAD |
|
rs1371649508 CA337897545 |
372 | S>R | No |
ClinGen TOPMed |
|
CA530427 rs776669960 |
373 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1425424023 CA337897516 |
374 | E>A | No |
ClinGen gnomAD |
|
rs1367657075 CA337897508 |
374 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs772021911 CA530426 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
CA16799995 rs1035159348 |
382 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs538694157 CA530423 |
383 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA530421 rs572960277 |
384 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1317146130 CA337897324 |
385 | Q>* | No |
ClinGen gnomAD |
|
CA530418 rs781753792 |
385 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs770654419 CA16799964 |
386 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530417 rs770654419 |
386 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337897289 rs751121546 |
387 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530416 rs751121546 |
387 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 388 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs553132525 CA530414 |
388 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1161020928 CA337897213 |
391 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs765094175 CA530411 |
391 | E>G | No |
ClinGen ExAC gnomAD |
|
CA530410 rs759424277 |
392 | G>S | No |
ClinGen ExAC gnomAD |
|
CA530408 rs200982240 |
393 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA530407 rs372466982 |
394 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774425238 CA530406 |
395 | V>M | No |
ClinGen ExAC TOPMed |
|
rs749540364 CA530404 |
396 | P>A | No |
ClinGen ExAC gnomAD |
|
CA337897110 rs746314221 |
397 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770045003 CA337897118 |
397 | D>N | No |
ClinGen ExAC gnomAD |
|
CA337897114 rs1390389600 |
397 | D>V | No |
ClinGen TOPMed |
|
rs770045003 CA530402 |
397 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1570387143 CA337897107 |
398 | S>P | No |
ClinGen Ensembl |
|
CA530398 rs751066507 |
399 | P>L | No |
ClinGen ExAC gnomAD |
|
rs757798116 CA530399 |
399 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777457352 CA337897067 |
400 | A>G | No |
ClinGen ExAC gnomAD |
|
rs777457352 CA530397 |
400 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1059828 CA337897039 |
402 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1059828 CA530394 VAR_031717 |
402 | L>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA530395 rs1059828 |
402 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1362889009 CA337897014 |
403 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1362889009 CA337897024 |
403 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs367901816 CA337896987 |
404 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753671198 CA530392 |
404 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530389 rs374965804 |
405 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760680988 CA530390 |
405 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337896983 rs760680988 |
405 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200726395 CA530388 |
406 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337896949 rs1174707279 |
407 | K>R | No |
ClinGen gnomAD |
|
CA530387 rs763082026 |
408 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775690147 CA530386 |
411 | P>L | No |
ClinGen ExAC gnomAD |
|
rs367795282 CA16799769 |
412 | K>M | No |
ClinGen ESP TOPMed |
|
CA337896860 rs1570386872 |
413 | Y>S | No |
ClinGen Ensembl |
|
CA530385 rs770062280 |
414 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1472919 rs1051015506 CA16799753 |
415 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA337896811 rs1557784336 |
416 | A>D | No |
ClinGen Ensembl |
|
rs371163262 CA337896783 |
418 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337895945 rs1311744460 |
421 | R>Q | No |
ClinGen gnomAD |
|
rs1380254877 CA337895948 |
421 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA16798411 rs776759183 |
422 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337895919 rs1375514100 |
423 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA337895907 rs1435004943 |
424 | E>* | No |
ClinGen TOPMed |
|
CA337895912 rs1435004943 |
424 | E>K | No |
ClinGen TOPMed |
|
rs1295939309 CA337895881 |
426 | F>L | No |
ClinGen gnomAD |
|
rs747435567 CA337895840 |
428 | C>* | No |
ClinGen ExAC |
|
CA337895843 rs1363857185 |
428 | C>F | No |
ClinGen TOPMed |
|
rs1165038165 CA337895785 |
433 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs1294542916 CA337895743 |
436 | T>S | No |
ClinGen TOPMed |
|
rs949285719 CA16798345 |
438 | G>E | No |
ClinGen TOPMed |
|
rs1430445962 CA337895704 |
440 | V>I | No |
ClinGen TOPMed |
|
rs1367017021 CA337895693 |
441 | Y>H | No |
ClinGen gnomAD |
|
rs1372586557 CA337895667 |
442 | R>I | No |
ClinGen TOPMed |
|
CA337895670 rs1372586557 |
442 | R>K | No |
ClinGen TOPMed |
|
CA337895652 rs1168533215 |
444 | K>E | No |
ClinGen TOPMed |
|
CA337895639 rs1420194134 |
445 | D>E | No |
ClinGen gnomAD |
|
CA337895644 rs773851666 |
445 | D>H | No |
ClinGen ExAC gnomAD |
|
CA530362 rs773851666 |
445 | D>Y | No |
ClinGen ExAC gnomAD |
|
RCV000480151 rs754605532 |
447 | K>missing | No |
ClinVar dbSNP |
|
TCGA novel | 449 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA337895615 rs1482740501 |
449 | D>H | No |
ClinGen gnomAD |
|
rs759584229 CA530348 |
451 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA16798133 rs55658751 |
451 | I>V | No |
ClinGen Ensembl |
|
CA337895568 rs1473847750 |
454 | L>P | No |
ClinGen TOPMed |
|
rs376481107 CA530345 |
456 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA16798121 rs766774315 |
456 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530342 rs557274278 |
459 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1341793242 CA337895529 |
460 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA337895461 rs1383590192 |
464 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA530339 rs774758666 |
464 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768186787 CA530336 |
466 | F>L | No |
ClinGen ExAC gnomAD |
|
rs748804386 CA530335 |
467 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA16798057 rs781272091 |
467 | P>T | No |
ClinGen Ensembl |
|
CA530333 rs372941585 |
469 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
CA337895388 rs1377166491 |
470 | S>F | No |
ClinGen gnomAD |
|
rs528622251 CA530328 |
473 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA337895355 rs1415351323 |
473 | E>G | No |
ClinGen gnomAD |
|
rs547132690 CA530329 |
473 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs559525010 CA530326 |
474 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1264975096 CA337895308 |
475 | N>K | No |
ClinGen gnomAD |
|
CA337895302 rs1322166329 |
476 | T>A | No |
ClinGen TOPMed |
|
CA530323 rs750773628 |
477 | I>M | No |
ClinGen ExAC |
|
rs760998676 CA530324 |
477 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337895250 rs1346163253 |
478 | L>F | No |
ClinGen TOPMed |
|
rs576602267 CA530322 |
479 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762130257 CA530321 |
479 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1295849649 CA337895205 |
480 | A>D | No |
ClinGen gnomAD |
|
rs1419856197 CA337895183 |
481 | Q>H | No |
ClinGen gnomAD |
|
rs774905323 CA530320 |
481 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs769051886 CA530319 |
482 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs762470986 CA530318 |
484 | N>H | No |
ClinGen ExAC gnomAD |
|
rs769400304 CA530316 |
485 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769400304 CA337895097 |
485 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs542926483 CA530317 |
485 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA530313 rs770700733 |
486 | V>A | No |
ClinGen ExAC gnomAD |
|
rs758281969 CA530310 |
488 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1259937678 CA337895024 |
489 | R>K | No |
ClinGen TOPMed |
|
CA530248 rs564492756 |
490 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs770903653 CA530249 |
490 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201308032 CA530246 |
491 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1257806308 CA337894761 |
493 | V>L | No |
ClinGen TOPMed |
|
CA337894764 rs1257806308 |
493 | V>M | No |
ClinGen TOPMed |
|
rs1254322527 CA337894749 |
494 | G>D | No |
ClinGen gnomAD |
|
CA337894756 rs1484531999 |
494 | G>S | No |
ClinGen gnomAD |
|
CA337894742 rs1209594409 |
495 | S>N | No |
ClinGen gnomAD |
|
rs779278752 CA530243 |
497 | M>I | No |
ClinGen ExAC |
|
CA337894645 rs1454756396 |
497 | M>V | No |
ClinGen TOPMed |
|
CA530242 rs368047902 |
499 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337894520 rs1397699196 |
500 | I>M | No |
ClinGen gnomAD |
|
CA530240 rs780664705 |
500 | I>N | No |
ClinGen ExAC gnomAD |
|
rs754276993 CA530241 |
500 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1376969807 CA337894493 |
501 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs749952146 CA530238 |
503 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749952146 CA530239 |
503 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA530237 rs767017556 |
504 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1059822 CA337894263 |
506 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA530235 rs751299422 |
506 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337894233 rs1166003410 |
507 | V>M | No |
ClinGen gnomAD |
|
CA530233 rs762903481 |
508 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1254738520 CA337894203 |
508 | E>G | No |
ClinGen gnomAD |
|
CA337894211 rs1426072836 |
508 | E>Q | No |
ClinGen gnomAD |
|
CA337894192 rs1483397577 |
509 | H>Y | No |
ClinGen gnomAD |
|
rs1570373309 CA337894161 |
510 | D>A | No |
ClinGen Ensembl |
|
COSM898846 CA16797533 rs936549366 |
510 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA530231 rs200942510 |
512 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1265803136 CA337894061 |
513 | S>N | No |
ClinGen gnomAD |
|
rs368648532 CA530230 |
514 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337894015 rs1570373268 |
515 | M>I | No |
ClinGen Ensembl |
|
CA530229 rs773366177 |
516 | E>K | No |
ClinGen ExAC gnomAD |
|
CA337893958 rs1311852410 |
517 | T>I | No |
ClinGen gnomAD |
|
rs748338152 CA530227 |
518 | M>T | No |
ClinGen ExAC gnomAD |
|
CA337893951 rs1351726295 |
518 | M>V | No |
ClinGen gnomAD |
|
rs1408821383 CA337893857 |
520 | Q>* | No |
ClinGen gnomAD |
|
CA530225 rs768991667 |
521 | P>L | No |
ClinGen ExAC gnomAD |
|
rs779154041 CA530226 |
521 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779154041 CA337893842 |
521 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337893738 rs1164647783 |
524 | P>S | No |
ClinGen gnomAD |
|
CA337893720 rs1473209358 |
525 | G>R | No |
ClinGen gnomAD |
|
rs1286422471 CA337893392 |
526 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs369296379 CA337893385 CA337893388 COSM1247910 |
527 | V>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs369296379 CA530160 |
527 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337893350 rs1308732109 |
528 | K>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 529 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750349983 CA530156 |
530 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1557779514 CA337893234 |
533 | Q>* | No |
ClinGen Ensembl |
|
CA337893216 rs758440722 |
533 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337893207 rs1415728933 |
534 | L>V | No |
ClinGen gnomAD |
|
rs1474845730 CA337893170 |
535 | L>P | No |
ClinGen gnomAD |
|
rs374016782 CA337893154 |
536 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA530151 rs374016782 |
536 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1412046998 CA337893163 |
536 | R>W | No |
ClinGen gnomAD |
|
rs1250675952 CA337893129 |
537 | G>V | No |
ClinGen gnomAD |
|
rs759869925 CA530149 |
538 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 539 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754154891 CA530147 |
539 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs766826532 CA530146 |
539 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773764705 CA530144 |
540 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773764705 CA337893064 |
540 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337893071 rs1334834195 |
540 | H>Y | No |
ClinGen gnomAD |
|
rs772461086 CA530143 |
541 | L>P | No |
ClinGen ExAC gnomAD |
|
CA530141 CA530142 rs377008127 |
542 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779742571 CA530138 |
543 | D>E | No |
ClinGen ExAC gnomAD |
|
rs372429949 CA530139 |
543 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA337892999 rs1321409606 |
544 | N>S | No |
ClinGen gnomAD |
|
CA530136 rs769575432 |
549 | R>C | No |
ClinGen ExAC gnomAD |
|
CA530135 rs369035896 |
549 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA337892843 rs1406651464 |
551 | L>F | No |
ClinGen gnomAD |
|
rs930296152 CA16797177 |
552 | K>E | No |
ClinGen TOPMed |
|
rs757164651 CA530133 |
553 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530132 rs748219267 |
555 | N>S | No |
ClinGen ExAC gnomAD |
|
CA530131 rs186584733 |
560 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA530129 rs375112331 |
561 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337892624 rs367807408 |
562 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA530126 rs367807408 COSM1247912 |
562 | G>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs574355501 CA530127 |
562 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA530125 rs768015274 |
563 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs762255154 CA530124 |
564 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1455583853 CA337892560 |
565 | K>N | No |
ClinGen gnomAD |
|
CA337892568 rs1322417142 |
565 | K>R | No |
ClinGen gnomAD |
|
rs1306829870 CA337892338 |
567 | G>C | No |
ClinGen gnomAD |
|
rs751969001 CA530085 |
569 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA530083 rs758938952 |
570 | G>E | No |
ClinGen ExAC gnomAD |
|
CA337892219 rs1457075047 |
570 | G>W | No |
ClinGen gnomAD |
|
CA530081 rs562414511 |
572 | A>E | No |
ClinGen ExAC gnomAD |
|
rs753246844 CA530082 |
572 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753246844 CA337892183 |
572 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530080 rs562414511 |
572 | A>V | No |
ClinGen ExAC gnomAD |
|
CA530077 rs372661453 |
573 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA530078 rs372661453 |
573 | R>Q | Variant assessed as Somatic; 4.737e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA337892164 rs756189308 |
573 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA530075 rs369978825 |
575 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 575 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774477354 CA337892082 |
576 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774477354 CA530073 |
576 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530071 rs745966193 |
577 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1480166327 CA337892010 |
578 | P>R | No |
ClinGen gnomAD |
|
CA337892016 rs183405236 |
578 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA530070 rs183405236 |
578 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1557778806 CA337891920 |
581 | A>D | No |
ClinGen Ensembl |
|
rs1265820956 CA337891937 |
581 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs771208691 CA530068 |
582 | Y>C | No |
ClinGen ExAC |
|
rs1292096698 CA337891884 |
583 | T>A | No |
ClinGen gnomAD |
|
rs778084332 CA337891877 |
583 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA530065 rs778084332 |
583 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754377026 CA530061 |
584 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 584 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779466075 CA530062 |
584 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779466075 CA337891867 |
584 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462887623 CA337891858 |
585 | V>F | No |
ClinGen TOPMed |
|
rs574343699 CA530058 |
586 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA530057 rs574343699 |
586 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA337891831 rs1164279573 |
587 | V>M | No |
ClinGen gnomAD |
|
CA337891800 rs1414326465 |
588 | T>I | No |
ClinGen gnomAD |
|
rs56410233 CA530054 |
589 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1239813871 CA337891762 |
590 | W>L | No |
ClinGen TOPMed |
|
TCGA novel | 590 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA530052 rs201693816 |
592 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs759486089 CA530051 |
592 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs558730635 CA337891689 |
593 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA530049 rs558730635 |
593 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA530046 rs773483575 |
594 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337891606 rs1386983147 |
597 | L>P | No |
ClinGen TOPMed |
|
CA337891573 rs1258448976 |
599 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs772423667 CA530045 |
599 | G>C | No |
ClinGen ExAC gnomAD |
|
rs1237862469 CA337891568 |
600 | A>T | No |
ClinGen gnomAD |
|
rs1331397300 CA337891557 |
600 | A>V | No |
ClinGen gnomAD |
|
CA337891515 rs1443636902 |
601 | K>N | No |
ClinGen gnomAD |
|
CA337891537 rs1418489938 |
601 | K>R | No |
ClinGen TOPMed |
|
CA529999 rs532125752 |
602 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA337891390 rs1369684445 |
602 | E>Q | No |
ClinGen gnomAD |
|
rs777360629 CA337929759 |
603 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA529997 rs200649303 |
605 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA529996 rs200649303 |
605 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1271340033 CA337929731 |
606 | A>D | No |
ClinGen gnomAD |
|
rs1439852483 CA337929736 |
606 | A>T | No |
ClinGen gnomAD |
|
CA529993 rs753808941 |
607 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs370353171 CA529991 |
609 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA529992 rs767559638 |
609 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337929636 rs1239043522 |
610 | W>C | No |
ClinGen TOPMed |
|
rs1289180773 CA337929628 |
611 | S>* | No |
ClinGen gnomAD |
|
rs1289180773 CA337929627 |
611 | S>L | No |
ClinGen gnomAD |
|
rs1197738461 CA337929621 |
612 | V>A | No |
ClinGen TOPMed |
|
rs1444649069 CA337929601 |
613 | G>A | No |
ClinGen gnomAD |
|
CA337929610 rs1315843305 |
613 | G>S | No |
ClinGen TOPMed |
|
CA337929586 rs1219804561 |
614 | C>R | No |
ClinGen TOPMed |
|
rs1328006914 CA337929577 |
614 | C>S | No |
ClinGen TOPMed gnomAD |
|
rs374606369 CA529987 |
617 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs879157131 CA337929526 CA337929524 |
617 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs879157131 CA16818120 |
617 | G>W | No |
ClinGen TOPMed gnomAD |
|
rs760098796 CA529985 |
618 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760098796 CA529986 |
618 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1468331735 CA337929497 |
618 | E>V | No |
ClinGen gnomAD |
|
CA337929440 rs1181591267 |
621 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs777338977 CA529984 |
622 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337929433 rs777338977 |
622 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337929409 rs1415608300 |
623 | K>E | No |
ClinGen TOPMed |
|
CA529981 rs746509028 |
624 | P>L | No |
ClinGen ExAC gnomAD |
|
rs561263753 CA529982 |
624 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA529979 COSM1247908 rs370914124 |
626 | F>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1371540541 CA337929310 |
627 | P>R | No |
ClinGen gnomAD |
|
CA529977 rs377624799 |
628 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA529975 rs55675585 |
629 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754813819 CA529976 |
629 | N>S | No |
ClinGen ExAC gnomAD |
|
CA337929277 rs757293035 |
630 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs757293035 COSM256594 CA529973 |
630 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs757293035 CA529974 |
630 | S>W | No |
ClinGen ExAC gnomAD |
|
rs575236489 CA529971 |
631 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1210692642 CA337929246 |
632 | I>T | No |
ClinGen TOPMed |
|
CA529968 rs765684442 |
633 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3802667 CA529969 rs753016535 |
633 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1192245768 CA337929225 |
634 | Q>* | No |
ClinGen gnomAD |
|
CA529967 rs777216116 |
634 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337929199 rs1218094984 |
636 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA16818028 rs201615210 |
636 | N>S | No |
ClinGen 1000Genomes |
|
rs558644609 CA529964 |
637 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA337929172 rs1136982 |
637 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1301052941 CA337929133 |
640 | K>* | No |
ClinGen gnomAD |
|
rs771650414 CA529961 |
640 | K>N | No |
ClinGen ExAC gnomAD |
|
CA337929128 rs1440075622 |
640 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA529944 rs1136980 |
641 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA529943 rs766919639 |
642 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1300311600 CA337929044 |
643 | G>R | No |
ClinGen gnomAD |
|
CA337929038 rs1460915158 |
643 | G>V | No |
ClinGen gnomAD |
|
rs1463019083 CA337929022 |
645 | P>S | No |
ClinGen gnomAD |
|
CA529938 rs1294323462 |
646 | S>G | No |
ClinGen TOPMed |
|
rs1457651804 CA337929006 |
646 | S>I | No |
ClinGen TOPMed |
|
rs1294323462 CA337929014 |
646 | S>R | No |
ClinGen TOPMed |
|
CA337929001 rs1187429690 |
647 | E>Q | No |
ClinGen gnomAD |
|
CA337928962 rs749032855 |
649 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA529937 rs749032855 |
649 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337928955 rs1252363890 |
650 | W>* | No |
ClinGen gnomAD |
|
rs775236052 CA529936 |
650 | W>C | No |
ClinGen ExAC gnomAD |
|
rs1273667219 CA337928937 |
651 | P>L | No |
ClinGen gnomAD |
|
CA16817757 rs865873922 |
651 | P>S | No |
ClinGen gnomAD |
|
rs1272048263 CA337928931 |
652 | G>D | No |
ClinGen gnomAD |
|
rs1331972710 CA337928935 |
652 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA529935 rs769681177 |
653 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs867481320 CA337928905 |
654 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1373060240 CA337928888 |
657 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA529933 rs781257946 |
657 | P>S | No |
ClinGen ExAC gnomAD |
|
VAR_060153 rs866149312 CA529932 |
658 | V>A | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs874516 CA529931 |
660 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA337928866 rs1164349716 |
661 | K>E | No |
ClinGen gnomAD |
|
rs1234281338 CA337928862 |
661 | K>M | No |
ClinGen TOPMed |
|
rs1257908811 CA337928847 |
662 | M>I | No |
ClinGen TOPMed |
|
rs755286013 CA529929 |
662 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755286013 CA337928850 |
662 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1157208015 CA337928831 |
663 | T>I | No |
ClinGen gnomAD |
|
CA529928 rs754150661 |
665 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373894114 CA16817679 |
665 | S>R | No |
ClinGen Ensembl |
|
CA529926 rs756555532 |
666 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1251832293 CA337928778 |
667 | H>P | No |
ClinGen TOPMed gnomAD |
|
rs1251832293 CA337928776 |
667 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA337928764 rs1352236001 |
668 | P>S | No |
ClinGen gnomAD |
|
rs1338410191 CA337928752 |
669 | Y>C | No |
ClinGen gnomAD |
|
rs761254847 CA529923 |
669 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA337928735 rs1353376633 |
670 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs986085109 CA16817636 |
670 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA337928731 rs1304687982 |
671 | N>H | No |
ClinGen gnomAD |
|
CA337928725 rs1570366405 |
671 | N>T | No |
ClinGen Ensembl |
|
rs751089541 CA529922 |
672 | L>F | No |
ClinGen ExAC gnomAD |
|
CA529921 rs763695200 |
673 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA529920 rs762574327 |
673 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1287286533 CA337928672 |
674 | K>N | No |
ClinGen gnomAD |
|
CA529919 rs775271664 |
674 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769472924 CA529918 |
675 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA529917 rs372303398 |
675 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA529913 rs779101783 |
677 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779101783 CA337928631 |
677 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748202034 CA529915 CA529914 |
677 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337928624 rs1448182606 |
678 | A>T | No |
ClinGen gnomAD |
|
CA337928617 rs1259081923 |
678 | A>V | No |
ClinGen gnomAD |
|
rs1570366265 CA337928609 |
679 | L>M | No |
ClinGen Ensembl |
|
rs768901474 CA529912 |
680 | L>F | No |
ClinGen ExAC gnomAD |
|
CA337928595 rs768901474 |
680 | L>V | No |
ClinGen ExAC gnomAD |
|
CA337928577 rs1411337152 |
682 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs1213535366 CA337928552 |
683 | Q>R | No |
ClinGen gnomAD |
|
CA529911 rs749505383 |
684 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA529908 rs756365885 CA529909 |
685 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368698821 CA529907 |
686 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA529905 rs757792406 |
689 | N>I | No |
ClinGen ExAC gnomAD |
|
rs1315025021 CA337928350 |
689 | N>K | No |
ClinGen gnomAD |
|
CA337928339 rs1432560438 |
690 | K>Q | No |
ClinGen gnomAD |
|
rs1185321616 CA337928182 |
693 | T>I | No |
ClinGen gnomAD |
|
rs1183064589 CA337928108 |
697 | G>R | No |
ClinGen gnomAD |
|
CA337927994 rs1198604989 |
701 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1477531670 CA337927970 |
702 | A>S | No |
ClinGen TOPMed |
|
rs1477531670 CA337927981 |
702 | A>T | No |
ClinGen TOPMed |
|
rs1231651131 CA337927900 |
705 | G>D | No |
ClinGen gnomAD |
|
rs1275179941 CA337927905 |
705 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA337927764 rs1333769060 |
712 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA337927757 rs1330541281 |
712 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA337927727 rs1330262695 |
714 | T>I | No |
ClinGen gnomAD |
|
rs1570365222 CA337927734 |
714 | T>P | No |
ClinGen Ensembl |
|
CA337927717 rs1217999716 |
715 | P>R | No |
ClinGen TOPMed |
|
CA337927695 rs1570365186 |
716 | L>P | No |
ClinGen Ensembl |
|
rs1276159636 CA337927682 |
717 | P>S | No |
ClinGen TOPMed |
|
rs1233370539 CA337927654 |
718 | I>V | No |
ClinGen TOPMed |
|
rs1570365137 CA337927611 |
719 | D>A | No |
ClinGen Ensembl |
|
rs1162256804 CA337927633 |
719 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1570365128 CA337927520 |
722 | M>I | No |
ClinGen Ensembl |
|
rs1570365118 CA337927500 |
723 | F>S | No |
ClinGen Ensembl |
|
rs1404384493 CA337927457 |
725 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs1408192472 CA337927420 |
726 | W>* | No |
ClinGen gnomAD |
|
CA337927413 rs1159946395 |
727 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA337927336 rs1231551410 |
730 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA337927309 rs1178544150 |
732 | Q>* | No |
ClinGen TOPMed gnomAD |
|
CA337927289 rs1478413913 |
733 | Q>R | No |
ClinGen TOPMed |
|
CA529895 rs773336663 |
734 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA337927263 rs1570365028 |
734 | R>H | No |
ClinGen Ensembl |
|
rs1254957874 CA337927219 |
737 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA337927147 rs1458916138 |
741 | P>L | No |
ClinGen TOPMed |
|
CA337927124 rs1451120055 |
743 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA337926960 rs1308317408 |
751 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1241959122 CA337926939 |
752 | Q>R | No |
ClinGen TOPMed |
|
CA337926854 rs1570364569 |
754 | G>D | No |
ClinGen Ensembl |
|
CA337926803 rs1421625089 |
756 | D>N | No |
ClinGen TOPMed |
|
CA337926764 rs1242794425 |
757 | D>N | No |
ClinGen gnomAD |
|
rs1398723010 CA337926624 |
761 | T>R | No |
ClinGen TOPMed |
|
CA337926532 rs1255352142 |
766 | T>P | No |
ClinGen TOPMed |
|
CA337926480 rs1285032024 |
768 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA337926453 rs1211267363 |
769 | N>K | No |
ClinGen gnomAD |
|
CA337926428 rs1261946594 |
771 | G>R | No |
ClinGen TOPMed |
|
CA337926390 rs1570364435 |
774 | A>T | No |
ClinGen Ensembl |
|
rs1292518113 CA337926362 |
775 | A>T | No |
ClinGen TOPMed |
|
rs1229273013 CA337926352 |
775 | A>V | No |
ClinGen TOPMed |
|
rs1288502058 CA337926306 |
778 | G>D | No |
ClinGen TOPMed |
|
CA337926314 rs1341267306 |
778 | G>S | No |
ClinGen TOPMed |
|
CA337926278 rs1165161394 |
780 | S>N | No |
ClinGen TOPMed |
No associated diseases with Q9UQ88
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.22 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
cyclin-dependent protein kinase holoenzyme complex | Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
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. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
cyclin-dependent protein serine/threonine kinase activity | Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
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. |
11 GO annotations of biological process
Name | Definition |
---|---|
apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
regulation of centrosome cycle | Any process that modulates the frequency, rate or extent of the centrosome cycle, the processes of centrosome duplication and separation. |
regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
regulation of mRNA processing | Any process that modulates the frequency, rate or extent of mRNA processing, those processes involved in the conversion of a primary mRNA transcript into a mature mRNA prior to its translation into polypeptide. |
regulation of RNA splicing | Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
15 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q15131 | CDK10 | Cyclin-dependent kinase 10 | Homo sapiens (Human) | PR |
Q00526 | CDK3 | Cyclin-dependent kinase 3 | Homo sapiens (Human) | PR |
Q96Q40 | CDK15 | Cyclin-dependent kinase 15 | Homo sapiens (Human) | PR |
O94921 | CDK14 | Cyclin-dependent kinase 14 | Homo sapiens (Human) | PR |
Q00537 | CDK17 | Cyclin-dependent kinase 17 | Homo sapiens (Human) | PR |
P49336 | CDK8 | Cyclin-dependent kinase 8 | Homo sapiens (Human) | PR |
Q9BWU1 | CDK19 | Cyclin-dependent kinase 19 | Homo sapiens (Human) | PR |
P50750 | CDK9 | Cyclin-dependent kinase 9 | Homo sapiens (Human) | PR |
Q5MAI5 | CDKL4 | Cyclin-dependent kinase-like 4 | Homo sapiens (Human) | PR |
Q00532 | CDKL1 | Cyclin-dependent kinase-like 1 | Homo sapiens (Human) | PR |
Q92772 | CDKL2 | Cyclin-dependent kinase-like 2 | Homo sapiens (Human) | PR |
Q8IZL9 | CDK20 | Cyclin-dependent kinase 20 | Homo sapiens (Human) | PR |
P21127 | CDK11B | Cyclin-dependent kinase 11B | Homo sapiens (Human) | PR |
Q09437 | cdk-11.1 | Cyclin-dependent kinase 11.1 | Caenorhabditis elegans | PR |
Q9FGW5 | CDKG1 | Cyclin-dependent kinase G1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MGDEKDSWKV | KTLDEILQEK | KRRKEQEEKA | EIKRLKNSDD | RDSKRDSLEE | GELRDHCMEI |
70 | 80 | 90 | 100 | 110 | 120 |
TIRNSPYRRE | DSMEDRGEED | DSLAIKPPQQ | MSRKEKVHHR | KDEKRKEKWK | HARVKEREHE |
130 | 140 | 150 | 160 | 170 | 180 |
RRKRHREEQD | KARREWERQK | RREMAREHSR | RERDRLEQLE | RKRERERKMR | EQQKEQREQK |
190 | 200 | 210 | 220 | 230 | 240 |
ERERRAEERR | KEREARREVS | AHHRTMREDY | SDKVKASHWS | RSPPRPPRER | FELGDGRKPG |
250 | 260 | 270 | 280 | 290 | 300 |
EARPAPAQKP | AQLKEEKMEE | RDLLSDLQDI | SDSERKTSSA | ESSSAESGSG | SEEEEEEEEE |
310 | 320 | 330 | 340 | 350 | 360 |
EEEEGSTSEE | SEEEEEEEEE | EEEETGSNSE | EASEQSAEEV | SEEEMSEDEE | RENENHLLVV |
370 | 380 | 390 | 400 | 410 | 420 |
PESRFDRDSG | ESEEAEEEVG | EGTPQSSALT | EGDYVPDSPA | LLPIELKQEL | PKYLPALQGC |
430 | 440 | 450 | 460 | 470 | 480 |
RSVEEFQCLN | RIEEGTYGVV | YRAKDKKTDE | IVALKRLKME | KEKEGFPITS | LREINTILKA |
490 | 500 | 510 | 520 | 530 | 540 |
QHPNIVTVRE | IVVGSNMDKI | YIVMNYVEHD | LKSLMETMKQ | PFLPGEVKTL | MIQLLRGVKH |
550 | 560 | 570 | 580 | 590 | 600 |
LHDNWILHRD | LKTSNLLLSH | AGILKVGDFG | LAREYGSPLK | AYTPVVVTQW | YRAPELLLGA |
610 | 620 | 630 | 640 | 650 | 660 |
KEYSTAVDMW | SVGCIFGELL | TQKPLFPGNS | EIDQINKVFK | ELGTPSEKIW | PGYSELPVVK |
670 | 680 | 690 | 700 | 710 | 720 |
KMTFSEHPYN | NLRKRFGALL | SDQGFDLMNK | FLTYFPGRRI | SAEDGLKHEY | FRETPLPIDP |
730 | 740 | 750 | 760 | 770 | 780 |
SMFPTWPAKS | EQQRVKRGTS | PRPPEGGLGY | SQLGDDDLKE | TGFHLTTTNQ | GASAAGPGFS |
LKF |