Q86Y07
Gene name |
VRK2 |
Protein name |
Serine/threonine-protein kinase VRK2 |
Names |
Vaccinia-related kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7444 |
EC number |
2.7.11.1: 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
185-215 (Activation loop from InterPro)
Target domain |
29-319 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

5 structures for Q86Y07
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2V62 | X-ray | 170 A | A/B | 14-335 | PDB |
5UU1 | X-ray | 200 A | A | 14-335 | PDB |
6NCG | X-ray | 245 A | A/B | 14-335 | PDB |
8Q1Z | X-ray | 185 A | A | 14-335 | PDB |
AF-Q86Y07-F1 | Predicted | AlphaFoldDB |
492 variants for Q86Y07
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs201610023 RCV000259387 RCV003168510 CA1670204 |
435 | D>N | Fanconi anemia complementation group L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001139581 rs951671744 CA48349939 |
440 | D>H | Fanconi anemia complementation group L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
RCV001139583 CA1670245 rs781556579 |
491 | R>C | Fanconi anemia complementation group L Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
CA1670258 rs76348639 RCV001537367 RCV001139584 |
502 | F>L | Fanconi anemia complementation group L [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1684780470 RCV001139585 |
504 | A>T | Fanconi anemia complementation group L [ClinVar] | Yes |
ClinVar dbSNP |
TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1193583209 CA347033518 |
2 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs149155455 CA1669636 |
5 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
CA1669637 rs149155455 |
5 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
CA347033566 rs1172365668 |
9 | Y>H | No |
ClinGen gnomAD |
|
TCGA novel | 9 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759887505 CA1669639 |
10 | K>R | No |
ClinGen ExAC gnomAD |
|
CA1669641 rs763657380 |
12 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1228024879 CA347033587 |
12 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1317346828 CA347033603 |
14 | P>L | No |
ClinGen TOPMed |
|
rs925391571 CA48729003 |
15 | F>L | No |
ClinGen gnomAD |
|
CA347033608 rs1247914804 |
15 | F>S | No |
ClinGen TOPMed |
|
TCGA novel | 16 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs370499341 CA1669646 |
20 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370499341 CA1669643 |
20 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1669644 rs370499341 |
20 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1669648 rs138787216 |
21 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 25 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347033686 rs1431343236 |
27 | N>D | No |
ClinGen TOPMed |
|
rs374589546 CA1669651 COSM3962954 |
27 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1314044764 CA347033693 |
28 | Q>* | No |
ClinGen Ensembl |
|
CA347033699 rs1311781124 |
28 | Q>H | No |
ClinGen gnomAD |
|
CA347033703 rs1211129736 |
29 | W>* | No |
ClinGen gnomAD |
|
rs749045675 CA1669652 |
30 | V>L | No |
ClinGen ExAC gnomAD |
|
rs562481384 CA347033714 |
31 | L>M | No |
ClinGen gnomAD |
|
rs768497359 CA1669653 |
31 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA347033717 rs768497359 |
31 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1320997368 CA347033721 |
32 | G>D | No |
ClinGen TOPMed |
|
rs748359792 CA1669655 |
33 | K>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 33 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1669656 rs144870539 |
35 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA347033748 rs1365812094 |
36 | G>D | No |
ClinGen TOPMed |
|
CA48729005 rs943968000 |
38 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA347033762 rs1036939858 CA48729006 |
39 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs747062607 CA1669658 |
40 | F>C | No |
ClinGen ExAC gnomAD |
|
CA1669657 rs773457432 |
40 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771355411 CA347033773 CA1669659 |
41 | G>R | No |
ClinGen ExAC gnomAD |
|
CA1669662 rs765571345 |
43 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759882735 CA1669661 |
43 | I>V | No |
ClinGen ExAC gnomAD |
|
CA1669663 rs141719281 |
44 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA347033790 rs141719281 |
44 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs371129971 CA1669664 |
45 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767112405 CA1669665 |
46 | A>T | No |
ClinGen ExAC gnomAD |
|
rs555993721 CA1669691 |
47 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA346924196 TCGA novel rs1413004719 |
48 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
CA48344470 rs757136629 |
49 | T>A | No |
ClinGen Ensembl |
|
rs34130684 VAR_041293 CA1669692 |
50 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346924207 rs1360116175 |
50 | N>T | No |
ClinGen gnomAD |
|
rs765218773 CA1669693 |
52 | P>L | No |
ClinGen ExAC gnomAD |
|
CA48344472 rs371516428 |
54 | K>E | No |
ClinGen ESP |
|
rs1406311135 CA346924240 |
55 | D>N | No |
ClinGen TOPMed |
|
CA346924245 rs1276929798 |
55 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs778206641 CA1669696 |
56 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778852734 CA1669694 |
56 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1669695 rs778852734 |
56 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA48344494 rs200928672 |
58 | H>R | No |
ClinGen Ensembl |
|
CA1669698 rs757329042 |
59 | V>A | No |
ClinGen ExAC gnomAD |
|
CA346924268 rs757329042 |
59 | V>G | No |
ClinGen ExAC gnomAD |
|
CA1669697 rs374084410 |
59 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
CA1669699 rs781297733 |
60 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 62 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs535808651 CA1669700 |
62 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA48345366 rs982524033 |
63 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA346924768 rs1322434643 |
63 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA346924797 rs1442691336 |
65 | Q>E | No |
ClinGen gnomAD |
|
CA346924813 rs1306724750 |
66 | E>Q | No |
ClinGen gnomAD |
|
rs1268160332 CA346924841 |
68 | G>R | No |
ClinGen TOPMed |
|
CA346924851 rs1203890028 |
69 | P>A | No |
ClinGen gnomAD |
|
CA1669727 rs779367998 |
69 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1247407305 CA346924876 |
71 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs1226168919 CA346924920 |
74 | L>H | No |
ClinGen TOPMed |
|
rs529796004 CA1669731 |
75 | K>I | No |
ClinGen ExAC gnomAD |
|
rs529796004 CA1669732 |
75 | K>T | No |
ClinGen ExAC gnomAD |
|
CA346924986 rs1237890313 |
79 | R>K | No |
ClinGen gnomAD |
|
rs775616179 CA1669734 |
80 | V>A | No |
ClinGen ExAC gnomAD |
|
CA346924995 rs1440759470 |
80 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1669735 rs775616179 |
80 | V>G | No |
ClinGen ExAC gnomAD |
|
rs1197962100 CA346925004 |
81 | A>T | No |
ClinGen gnomAD |
|
rs761453842 CA1669739 |
83 | K>N | No |
ClinGen ExAC gnomAD |
|
CA1669740 rs767781504 |
84 | D>E | No |
ClinGen ExAC gnomAD |
|
CA346925027 rs1394584415 |
84 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs780517094 | 84 | D>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA346925041 rs1345410198 |
86 | I>V | No |
ClinGen TOPMed |
|
rs1331503010 CA346925062 |
87 | K>R | No |
ClinGen TOPMed |
|
rs1433688951 CA346925072 |
88 | K>N | No |
ClinGen gnomAD |
|
rs981876712 CA48346669 |
88 | K>Q | No |
ClinGen Ensembl |
|
rs1254573115 CA346925088 |
90 | I>M | No |
ClinGen gnomAD |
|
rs1201527327 CA346925095 |
91 | E>D | No |
ClinGen gnomAD |
|
rs1483162142 CA346925089 COSM3839742 |
91 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs140286253 CA1669766 |
92 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1669767 COSM267751 rs765840317 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA346925100 rs765840317 COSM316485 |
92 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1669768 rs753131070 |
93 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758845875 CA1669769 |
94 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA346925113 rs1428668819 |
94 | Q>H | No |
ClinGen gnomAD |
|
rs778249587 CA1669770 |
97 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs1465414516 CA346925139 |
98 | L>* | No |
ClinGen gnomAD |
|
rs1375705165 CA346925136 |
98 | L>I | No |
ClinGen gnomAD |
|
CA1669771 rs747335639 |
99 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377003543 CA1669773 |
101 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
CA48346717 rs765005527 |
102 | L>P | No |
ClinGen Ensembl |
|
CA346925165 rs1297612290 |
103 | F>I | No |
ClinGen TOPMed gnomAD |
|
rs375372500 CA1669774 |
104 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1299550885 CA346925190 |
106 | S>F | No |
ClinGen gnomAD |
|
CA48346756 rs79227349 |
107 | G>C | No |
ClinGen ExAC gnomAD |
|
CA1669776 rs79227349 |
107 | G>S | No |
ClinGen ExAC gnomAD |
|
rs748009265 CA1669777 |
108 | L>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 110 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs147530902 CA1669779 |
113 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1485940448 CA346925231 |
113 | G>R | No |
ClinGen gnomAD |
|
COSM1632066 rs1287047874 CA346925676 |
115 | S>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1014294644 CA48348643 |
117 | R>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 117 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA346925757 rs1558619686 |
119 | M>T | No |
ClinGen Ensembl |
|
CA1669803 rs202150387 |
119 | M>V | No |
ClinGen ExAC gnomAD |
|
CA346925765 rs1274707992 |
120 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1456262266 CA346925780 |
122 | E>K | No |
ClinGen gnomAD |
|
CA1669804 rs368977421 |
123 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA48348692 rs931213441 |
126 | I>T | No |
ClinGen gnomAD |
|
CA346925807 rs1233277614 |
126 | I>V | No |
ClinGen gnomAD |
|
CA346925814 rs1196259656 |
127 | D>H | No |
ClinGen gnomAD |
|
CA346925842 rs1240783927 |
129 | Q>* | No |
ClinGen gnomAD |
|
CA1669806 rs775454184 |
129 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1669808 rs764697966 |
130 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1669807 rs763027520 |
130 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1439271270 CA346925876 |
131 | I>M | No |
ClinGen TOPMed |
|
rs1278006498 CA346925886 |
132 | S>L | No |
ClinGen TOPMed |
|
CA346925925 rs1163418826 |
135 | N>K | No |
ClinGen gnomAD |
|
rs142982287 CA1669809 |
135 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142982287 CA1669810 |
135 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201232703 CA1669811 |
136 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs750762302 CA1669812 |
137 | T>N | No |
ClinGen ExAC gnomAD |
|
CA346925965 rs1446389808 |
139 | K>E | No |
ClinGen gnomAD |
|
rs754614058 CA1669813 |
140 | K>R | No |
ClinGen ExAC gnomAD |
|
rs141045353 CA1669814 |
142 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752154121 CA346926008 |
142 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752154121 CA1669815 |
142 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346926049 rs1312718976 |
146 | L>V | No |
ClinGen TOPMed |
|
rs1273381699 CA346926062 |
147 | G>R | No |
ClinGen gnomAD |
|
CA1669818 rs746927837 |
149 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768716776 CA1669819 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA1669820 rs780878605 |
150 | M>I | No |
ClinGen ExAC gnomAD |
|
rs772465160 CA1669847 |
151 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 152 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1669848 rs773766763 |
152 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs143605636 CA1669850 |
155 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
CA346926366 rs1265195650 |
155 | E>K | No |
ClinGen TOPMed |
|
CA1669851 rs535615162 |
157 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs35966666 CA1669853 VAR_041294 |
157 | I>M | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1669852 rs535615162 |
157 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA48350008 rs910273959 |
157 | I>V | No |
ClinGen gnomAD |
|
rs1248039057 CA346926456 |
161 | E>G | No |
ClinGen Ensembl |
|
CA1669855 rs756689245 |
164 | H>R | No |
ClinGen ExAC gnomAD |
|
rs767418182 CA1669856 |
165 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 167 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
VAR_017095 rs1051061 CA1669857 |
167 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1669858 rs755909448 |
169 | A>T | No |
ClinGen ExAC gnomAD |
|
CA346926566 rs1573033842 |
170 | A>G | No |
ClinGen Ensembl |
|
rs763240464 CA1669859 |
170 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1669860 rs749046235 |
171 | N>H | No |
ClinGen ExAC gnomAD |
|
CA346926587 rs1437146452 |
172 | L>V | No |
ClinGen TOPMed |
|
rs1380456141 CA346926623 |
175 | G>D | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 176 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1669862 rs755267609 |
179 | P>S | No |
ClinGen ExAC gnomAD |
|
CA1669864 rs748308544 |
180 | D>G | No |
ClinGen ExAC gnomAD |
|
CA346926670 rs1455902135 |
180 | D>N | No |
ClinGen gnomAD |
|
rs1454786007 CA346926692 |
181 | Q>H | No |
ClinGen gnomAD |
|
CA48379669 rs941482762 |
182 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs1294833091 CA346931242 |
182 | V>G | No |
ClinGen TOPMed |
|
rs1251054642 CA346931296 |
184 | L>V | No |
ClinGen gnomAD |
|
rs1558664957 CA346931320 |
185 | A>G | No |
ClinGen Ensembl |
|
rs1254737152 CA346931426 |
188 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs541143340 CA1669886 |
189 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs746298070 CA1669887 |
190 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346931483 rs1417953894 |
190 | S>C | No |
ClinGen gnomAD |
|
rs1459697627 CA346931499 |
191 | Y>N | No |
ClinGen gnomAD |
|
CA346931627 rs559471489 |
193 | Y>* | No |
ClinGen 1000Genomes gnomAD |
|
rs1056212237 CA48379715 |
194 | C>F | No |
ClinGen TOPMed |
|
rs1372281548 CA346931655 |
196 | N>H | No |
ClinGen gnomAD |
|
CA1669888 rs147166402 |
196 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1669889 rs147166402 |
196 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142690362 CA1669891 |
198 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1414130276 CA346931726 |
199 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA346931736 rs1313490183 |
200 | K>Q | No |
ClinGen gnomAD |
|
TCGA novel | 200 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1357463274 CA346931771 |
201 | Q>H | No |
ClinGen gnomAD |
|
CA346931770 rs1181642305 |
201 | Q>L | No |
ClinGen Ensembl |
|
rs1269722901 CA346931795 |
202 | Y>* | No |
ClinGen TOPMed |
|
rs772794778 CA1669892 |
202 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 203 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 203 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1669893 rs760039901 |
204 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1015708609 CA48379742 |
205 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs766496255 CA1669894 |
208 | K>E | No |
ClinGen ExAC gnomAD |
|
CA346931902 rs1347707584 |
209 | G>R | No |
ClinGen gnomAD |
|
CA1669895 rs753816759 |
209 | G>V | No |
ClinGen ExAC gnomAD |
|
CA1669896 rs139475807 |
210 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
CA1669897 VAR_051681 rs36081172 |
211 | N>S | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA1669899 rs750647897 |
212 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1669898 rs750647897 |
212 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144394613 CA1669900 |
214 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1669901 rs751662781 |
215 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA48379779 rs1028587343 |
215 | E>Q | No |
ClinGen TOPMed |
|
CA1669902 rs751662781 |
215 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1433966864 CA346932081 |
216 | F>I | No |
ClinGen gnomAD |
|
CA1669904 rs17049354 |
216 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346932107 rs1284767640 |
217 | T>A | No |
ClinGen TOPMed |
|
TCGA novel | 218 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 218 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA346932240 rs1451772319 |
220 | D>E | No |
ClinGen gnomAD |
|
rs770181704 CA1669905 |
220 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA48379799 rs764150715 |
222 | H>Y | No |
ClinGen gnomAD |
|
rs1384138022 CA346932309 |
223 | K>E | No |
ClinGen gnomAD |
|
rs1301627824 CA346932325 |
223 | K>M | No |
ClinGen gnomAD |
|
TCGA novel | 225 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA346932385 rs1370796738 |
226 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA1669927 rs749731864 |
227 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA48316054 rs186975464 |
227 | L>V | No |
ClinGen 1000Genomes |
|
CA346924123 rs1408801076 |
228 | S>Y | No |
ClinGen gnomAD |
|
CA346924132 rs1573297181 |
229 | R>S | No |
ClinGen Ensembl |
|
CA48316056 rs755287817 |
230 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA48316057 rs912137366 |
230 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA1669929 rs777534671 |
232 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346924151 rs144319023 |
233 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs144319023 CA1669930 |
233 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1669931 rs201406382 |
234 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs145144904 CA48316059 |
235 | I>F | No |
ClinGen ESP ExAC TOPMed |
|
CA1669933 rs145144904 |
235 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
CA48316060 rs1045089784 |
236 | L>V | No |
ClinGen Ensembl |
|
rs775284608 CA1669935 |
237 | G>S | No |
ClinGen ExAC gnomAD |
|
CA1669936 rs762863823 |
238 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1229752299 CA346924330 |
240 | M>V | No |
ClinGen gnomAD |
|
CA346924351 rs1290927589 |
241 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA346924348 rs1290927589 |
241 | L>R | No |
ClinGen TOPMed gnomAD |
|
CA48316061 rs1034927922 |
242 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA346924357 rs1034927922 |
242 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA1669937 rs779052033 |
242 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1669938 rs774670488 |
243 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1340109216 CA346924364 |
243 | W>R | No |
ClinGen TOPMed |
|
rs1213917726 CA346924409 |
246 | G>R | No |
ClinGen TOPMed |
|
CA1669939 rs762051577 |
247 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767674577 CA1669940 |
247 | K>R | No |
ClinGen ExAC gnomAD |
|
rs369326737 CA1669941 |
248 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756184673 CA346924445 |
249 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346924451 rs1417260150 |
249 | P>R | No |
ClinGen gnomAD |
|
CA346924447 rs756184673 |
249 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756184673 CA1669942 |
249 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA48316064 rs146023220 |
250 | W>G | No |
ClinGen ESP gnomAD |
|
rs146023220 CA346924457 |
250 | W>R | No |
ClinGen ESP gnomAD |
|
CA1669944 rs766972076 |
252 | Q>H | No |
ClinGen ExAC |
|
CA346924521 rs1409793489 |
254 | L>V | No |
ClinGen gnomAD |
|
CA346924560 rs1171709314 |
257 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA346924559 rs1171709314 |
257 | P>R | No |
ClinGen gnomAD |
|
rs200483690 CA1669946 |
259 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1413506734 CA346924582 |
259 | A>V | No |
ClinGen gnomAD |
|
CA48316066 rs75161943 |
260 | V>G | No |
ClinGen Ensembl |
|
CA1669947 rs779177111 |
260 | V>L | No |
ClinGen ExAC gnomAD |
|
rs146957547 CA1669949 |
262 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1479964419 CA346924625 |
263 | A>T | No |
ClinGen gnomAD |
|
rs755741364 CA1669991 |
268 | L>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 269 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA346925280 rs1213411092 |
270 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1440785190 CA346925290 |
271 | L>F | No |
ClinGen TOPMed |
|
rs376537647 CA48317389 |
272 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
CA1669993 rs753290532 |
273 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA1669994 rs754501037 |
275 | V>L | No |
ClinGen ExAC gnomAD |
|
CA346925312 rs754501037 |
275 | V>M | No |
ClinGen ExAC gnomAD |
|
CA346925320 rs1469220987 |
276 | L>R | No |
ClinGen gnomAD |
|
CA346925330 rs370715573 |
277 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1573317969 CA346925333 |
278 | W>* | No |
ClinGen Ensembl |
|
rs748050076 CA1669996 |
278 | W>R | No |
ClinGen ExAC gnomAD |
|
rs758297224 CA346925339 |
279 | A>P | No |
ClinGen ExAC gnomAD |
|
CA1669997 rs758297224 |
279 | A>T | No |
ClinGen ExAC gnomAD |
|
CA346925343 rs1324897637 |
279 | A>V | No |
ClinGen gnomAD |
|
rs1211143100 CA346925351 |
281 | S>P | No |
ClinGen gnomAD |
|
rs777568110 CA346925373 |
284 | S>N | No |
ClinGen ExAC gnomAD |
|
rs777568110 CA1669998 |
284 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1388440005 CA346925379 |
285 | C>S | No |
ClinGen gnomAD |
|
CA346926205 rs1158119781 |
286 | C>Y | No |
ClinGen TOPMed |
|
rs1225641709 CA346926210 |
287 | E>K | No |
ClinGen gnomAD |
|
rs374086826 CA1670026 |
288 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA346926227 rs1340596305 |
289 | A>D | No |
ClinGen gnomAD |
|
rs771587514 | 292 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA346926253 rs1484426495 |
293 | V>I | No |
ClinGen gnomAD |
|
TCGA novel | 295 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA48321638 rs767894317 |
296 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1256363642 CA346926277 |
296 | H>R | No |
ClinGen gnomAD |
|
CA346926275 rs1458441605 |
296 | H>Y | No |
ClinGen gnomAD |
|
CA346926284 rs1408594037 |
297 | S>T | No |
ClinGen TOPMed |
|
CA1670032 rs759254799 |
300 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA346926371 rs1373679205 |
305 | N>H | No |
ClinGen gnomAD |
|
rs978318198 CA48321724 |
306 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs1434241216 CA346926387 |
306 | Y>N | No |
ClinGen gnomAD |
|
rs1471705503 CA346926399 |
307 | Q>E | No |
ClinGen TOPMed |
|
CA1670035 rs147504112 |
307 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs752212302 CA1670034 |
307 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1424657213 CA346926415 |
308 | A>P | No |
ClinGen gnomAD |
|
CA1670036 rs764079360 |
309 | L>H | No |
ClinGen ExAC gnomAD |
|
CA1670037 rs372766947 |
310 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA346926469 rs1214438598 |
312 | I>N | No |
ClinGen TOPMed |
|
TCGA novel | 312 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 313 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1448124491 CA346926496 |
314 | N>H | No |
ClinGen TOPMed |
|
rs757039760 CA1670038 |
314 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 314 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1670039 rs140015622 |
316 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA346926570 rs1256074513 |
319 | P>S | No |
ClinGen gnomAD |
|
rs201301792 CA1670041 |
321 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs780354988 CA1670042 |
322 | P>S | No |
ClinGen ExAC gnomAD |
|
CA346926618 rs1573358694 |
323 | L>Q | No |
ClinGen Ensembl |
|
CA1670043 rs749443952 |
323 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1294356946 CA346926625 |
324 | D>H | No |
ClinGen gnomAD |
|
CA48321799 rs867550402 |
326 | S>F | No |
ClinGen Ensembl |
|
rs1553423606 CA346926696 |
327 | T>R | No |
ClinGen Ensembl |
|
rs1288416103 CA346926702 |
328 | K>E | No |
ClinGen TOPMed |
|
CA1670044 rs768835989 |
328 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346926722 rs1247503593 |
330 | Q>H | No |
ClinGen gnomAD |
|
rs200839928 CA48321814 |
330 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs779330212 CA1670045 |
331 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346926736 rs1403477641 |
332 | I>M | No |
ClinGen TOPMed |
|
TCGA novel | 334 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs372039455 CA1670048 |
335 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1670047 rs772409945 |
335 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA346926761 rs760966383 |
336 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1670049 rs760966383 |
336 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389810595 CA346926763 |
337 | P>S | No |
ClinGen gnomAD |
|
CA1670052 rs552864455 |
338 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346926785 rs1475470403 |
340 | Q>E | No |
ClinGen TOPMed |
|
rs185638327 CA1670069 |
342 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs570821056 CA1670070 |
347 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA346927204 rs1271024887 |
347 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1271024887 CA346927206 |
347 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA1670071 rs771265352 |
348 | A>T | No |
ClinGen ExAC gnomAD |
|
CA346927234 rs1159706666 |
349 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA346927245 rs1479634236 |
350 | K>M | No |
ClinGen TOPMed gnomAD |
|
CA346927236 rs1248335439 |
350 | K>Q | No |
ClinGen gnomAD |
|
rs762621713 CA1670073 |
351 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762621713 CA346927249 |
351 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768142185 CA1670074 |
353 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346927317 rs773924519 |
356 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369691181 CA1670076 |
357 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146351868 CA1670077 |
358 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1175815357 CA346927343 |
358 | R>S | No |
ClinGen TOPMed |
|
CA1670078 rs146351868 |
358 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760589119 CA1670086 |
361 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM2153896 rs139700760 CA1670084 |
361 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
CA346927425 rs766309498 |
363 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1016401694 CA48328905 |
363 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs753639112 CA1670088 |
364 | V>I | No |
ClinGen ExAC gnomAD |
|
rs768472226 | 364 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA1670090 rs765314013 |
369 | S>G | No |
ClinGen ExAC gnomAD |
|
rs201050311 CA1670091 |
370 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346927536 rs1305636315 |
372 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA1670092 rs377313037 |
372 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs747481486 CA1670094 |
373 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757718898 CA1670095 |
376 | W>C | No |
ClinGen ExAC gnomAD |
|
rs148716461 CA48328991 |
377 | K>* | No |
ClinGen ESP TOPMed gnomAD |
|
CA346927584 rs148716461 |
377 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
CA346927596 rs1573393096 |
378 | V>G | No |
ClinGen Ensembl |
|
rs1466932109 CA346927591 |
378 | V>M | No |
ClinGen TOPMed |
|
CA346927598 rs1240251657 |
379 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs1157185593 CA346927601 |
379 | Q>R | No |
ClinGen TOPMed |
|
rs1183898557 CA346927606 |
380 | K>* | No |
ClinGen gnomAD |
|
CA346927607 rs1183898557 |
380 | K>E | No |
ClinGen gnomAD |
|
CA1670097 rs746169386 |
381 | E>G | No |
ClinGen ExAC gnomAD |
|
CA346927621 rs1429658189 |
382 | E>* | No |
ClinGen gnomAD |
|
CA1670098 rs190406376 |
382 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1670100 rs773870590 |
384 | L>P | No |
ClinGen ExAC |
|
rs773870590 CA1670099 |
384 | L>R | No |
ClinGen ExAC |
|
CA1670101 rs369008157 |
385 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1558700242 CA346927647 |
386 | G>A | No |
ClinGen Ensembl |
|
CA346927653 rs1358146130 |
387 | L>S | No |
ClinGen gnomAD |
|
CA1670104 rs146208280 |
388 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA346927658 rs146208280 |
388 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1670105 rs776572424 |
390 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1214118101 CA346927701 |
394 | Q>E | No |
ClinGen TOPMed |
|
rs1359687489 CA346927706 |
394 | Q>H | No |
ClinGen gnomAD |
|
CA346929112 rs1482062218 |
395 | E>* | No |
ClinGen gnomAD |
|
rs374683786 CA1670176 |
397 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA346929190 rs1256553125 |
397 | T>I | No |
ClinGen gnomAD |
|
CA48349698 rs1046921367 |
400 | R>G | No |
ClinGen gnomAD |
|
TCGA novel | 401 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1402847552 CA346929341 |
403 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA346929365 rs760023098 |
404 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760023098 CA1670178 |
404 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1170502564 CA346929369 |
404 | Q>P | No |
ClinGen gnomAD |
|
rs903823275 CA48349741 |
405 | E>A | No |
ClinGen TOPMed |
|
rs575242941 CA1670179 |
405 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs935173321 CA48349748 |
407 | Q>E | No |
ClinGen Ensembl |
|
CA346929437 rs1404775219 |
407 | Q>L | No |
ClinGen gnomAD |
|
TCGA novel | 408 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1670180 rs753065395 |
408 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1376865841 CA346929452 |
408 | E>K | No |
ClinGen TOPMed |
|
rs756980264 CA1670182 |
409 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA48349776 rs756980264 |
409 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346929506 rs1215440566 |
410 | L>* | No |
ClinGen gnomAD |
|
CA346929489 rs377436957 |
410 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1054282181 CA48349795 |
411 | N>D | No |
ClinGen TOPMed |
|
CA346929527 rs1297089311 |
411 | N>K | No |
ClinGen gnomAD |
|
CA1670184 rs749963743 |
411 | N>S | No |
ClinGen ExAC gnomAD |
|
CA346929534 rs1466775407 |
412 | E>* | No |
ClinGen TOPMed |
|
CA1670188 rs779903784 |
415 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346929599 rs779903784 |
415 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA532803149 rs1256169047 |
415 | S>T | No |
ClinGen gnomAD |
|
rs749191700 CA1670190 |
416 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1670181 rs764517006 |
417 | P>L | No |
ClinGen ExAC |
|
rs754868989 CA1670192 |
418 | Q>K | No |
ClinGen ExAC TOPMed |
|
rs778693777 CA48349832 |
418 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs778693777 CA1670193 |
418 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA1670194 rs535874314 |
420 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA1670199 rs747110288 |
425 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771016640 CA1670200 |
426 | P>Q | No |
ClinGen ExAC gnomAD |
|
CA346929853 rs1259142882 |
426 | P>S | No |
ClinGen TOPMed |
|
rs1213911879 CA770590467 |
428 | S>* | No |
ClinGen TOPMed |
|
rs1352314776 CA346929968 |
431 | E>D | No |
ClinGen TOPMed |
|
rs776536382 CA1670201 |
431 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1437860171 CA346929973 |
432 | P>T | No |
ClinGen gnomAD |
|
rs760145730 CA1670202 |
434 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346930009 rs760145730 |
434 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765778508 CA1670203 |
434 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA346930060 rs1301366425 |
437 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1301366425 CA346930062 |
437 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs1325171728 CA346930073 |
438 | S>G | No |
ClinGen gnomAD |
|
CA346930071 rs1325171728 |
438 | S>R | No |
ClinGen gnomAD |
|
rs951141798 CA48349958 |
441 | I>T | No |
ClinGen gnomAD |
|
TCGA novel | 442 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1670209 rs138006413 |
443 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138006413 CA1670208 |
443 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346930126 rs1488136542 |
444 | K>* | No |
ClinGen gnomAD |
|
rs765943099 CA1670211 |
447 | S>A | No |
ClinGen ExAC |
|
CA1670213 rs558816519 |
450 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1670214 rs778820117 |
452 | K>N | No |
ClinGen ExAC gnomAD |
|
rs866227401 CA48350003 |
453 | Y>H | No |
ClinGen gnomAD |
|
rs747996761 CA1670215 |
454 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1015035479 CA48350043 |
456 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs758190931 CA1670217 |
457 | V>L | No |
ClinGen ExAC gnomAD |
|
rs201239590 CA48350079 |
458 | S>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA1670219 rs371409919 |
459 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1670218 rs371409919 |
459 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1670222 rs368279793 |
460 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
CA346930230 rs1225222385 |
461 | I>V | No |
ClinGen gnomAD |
|
rs776125101 CA1670225 |
462 | T>R | No |
ClinGen ExAC |
|
rs149451697 CA1670228 |
463 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 463 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763456981 CA1670227 |
463 | D>Y | No |
ClinGen ExAC |
|
rs562772305 CA1670230 |
464 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760396835 CA346930257 |
465 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1670231 rs760396835 |
465 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765881788 CA1670232 |
468 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1265363822 CA346930277 |
468 | T>S | No |
ClinGen TOPMed |
|
rs1337418647 CA346930297 |
471 | W>C | No |
ClinGen TOPMed |
|
rs1234343264 CA346930292 |
471 | W>R | No |
ClinGen TOPMed |
|
rs753412993 CA1670233 |
472 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA1670234 rs148197441 |
473 | T>A | No |
ClinGen ESP ExAC |
|
CA346930309 rs1276621824 |
473 | T>I | No |
ClinGen TOPMed |
|
rs752602996 CA1670236 |
474 | I>T | No |
ClinGen ExAC gnomAD |
|
CA346930323 rs976332865 |
476 | Q>* | No |
ClinGen TOPMed |
|
CA48350273 rs976332865 |
476 | Q>E | No |
ClinGen TOPMed |
|
rs1317563567 CA346930348 |
479 | L>R | No |
ClinGen TOPMed |
|
rs1408807730 CA346930353 |
480 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs969803024 CA48350308 |
481 | E>* | No |
ClinGen Ensembl |
|
rs1427209487 CA346930359 |
481 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA1670237 rs773974224 |
481 | E>S | No |
ClinGen ExAC gnomAD |
|
CA346930366 rs1306907046 |
482 | E>K | No |
ClinGen gnomAD |
|
rs923398613 CA48350310 |
483 | T>A | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 483 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1430934039 CA346930383 |
484 | N>K | No |
ClinGen TOPMed |
|
CA48350321 rs199732201 |
485 | A>V | No |
ClinGen Ensembl |
|
CA346930394 rs1558724441 |
486 | D>G | No |
ClinGen Ensembl |
|
CA346930392 rs1265983706 |
486 | D>Y | No |
ClinGen TOPMed |
|
rs1553432643 CA346930401 |
487 | V>D | No |
ClinGen Ensembl |
|
rs1553432643 CA1670240 |
487 | V>G | No |
ClinGen Ensembl |
|
CA1670242 rs777650949 |
488 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346930422 rs1228793029 |
490 | Y>C | No |
ClinGen gnomAD |
|
rs781556579 CA346930426 |
491 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1021951 rs192754138 CA1670247 |
491 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
CA1670248 rs192754138 |
491 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA346930427 rs192754138 |
491 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs781556579 CA1670246 |
491 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346930437 rs1275459390 |
493 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1670251 rs146396399 |
496 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346930456 rs1439763818 |
496 | V>L | No |
ClinGen gnomAD |
|
CA1670255 rs560604367 |
499 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1670256 rs768994925 |
500 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1670257 rs774791078 |
501 | V>I | No |
ClinGen ExAC gnomAD |
|
CA346930572 rs1272106077 |
508 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA346930588 rs1338457697 |
509 | L>W | No |
ClinGen gnomAD |
No associated diseases with Q86Y07
4 regional properties for Q86Y07
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
8 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
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. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
protein domain specific binding | Binding to a specific domain of a protein. |
protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
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. |
7 GO annotations of biological process
Name | Definition |
---|---|
cellular response to oxidative stress | 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of interleukin-1-mediated signaling pathway | Any process that modulates the frequency, rate or extent of interleukin-1-mediated signaling pathway. |
regulation of MAPK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
16 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P29295 | HRR25 | Casein kinase I homolog HRR25 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
P35508 | CSNK1D | Casein kinase I isoform delta | Bos taurus (Bovine) | SS |
Q5ZLL1 | CSNK1E | Casein kinase I isoform epsilon | Gallus gallus (Chicken) | SS |
P48730 | CSNK1D | Casein kinase I isoform delta | Homo sapiens (Human) | SS |
P49674 | CSNK1E | Casein kinase I isoform epsilon | Homo sapiens (Human) | EV |
O00311 | CDC7 | Cell division cycle 7-related protein kinase | Homo sapiens (Human) | PR |
Q9DC28 | Csnk1d | Casein kinase I isoform delta | Mus musculus (Mouse) | PR |
Q9JMK2 | Csnk1e | Casein kinase I isoform epsilon | Mus musculus (Mouse) | SS |
Q8BN21 | Vrk2 | Serine/threonine-protein kinase VRK2 | Mus musculus (Mouse) | PR |
Q06486 | Csnk1d | Casein kinase I isoform delta | Rattus norvegicus (Rat) | PR |
P42169 | C03C10.2 | Putative casein kinase I C03C10.2 | Caenorhabditis elegans | PR |
P34516 | K06H7.8 | Putative serine/threonine-protein kinase K06H7.1 | Caenorhabditis elegans | PR |
Q6P647 | csnk1d | Casein kinase I isoform delta | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
Q7T2E3 | csnk1da | Casein kinase I isoform delta-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
Q6P3K7 | csnk1db | Casein kinase I isoform delta-B | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q7ZUS1 | vrk1 | Serine/threonine-protein kinase VRK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MPPKRNEKYK | LPIPFPEGKV | LDDMEGNQWV | LGKKIGSGGF | GLIYLAFPTN | KPEKDARHVV |
70 | 80 | 90 | 100 | 110 | 120 |
KVEYQENGPL | FSELKFYQRV | AKKDCIKKWI | ERKQLDYLGI | PLFYGSGLTE | FKGRSYRFMV |
130 | 140 | 150 | 160 | 170 | 180 |
MERLGIDLQK | ISGQNGTFKK | STVLQLGIRM | LDVLEYIHEN | EYVHGDIKAA | NLLLGYKNPD |
190 | 200 | 210 | 220 | 230 | 240 |
QVYLADYGLS | YRYCPNGNHK | QYQENPRKGH | NGTIEFTSLD | AHKGVALSRR | SDVEILGYCM |
250 | 260 | 270 | 280 | 290 | 300 |
LRWLCGKLPW | EQNLKDPVAV | QTAKTNLLDE | LPQSVLKWAP | SGSSCCEIAQ | FLVCAHSLAY |
310 | 320 | 330 | 340 | 350 | 360 |
DEKPNYQALK | KILNPHGIPL | GPLDFSTKGQ | SINVHTPNSQ | KVDSQKAATK | QVNKAHNRLI |
370 | 380 | 390 | 400 | 410 | 420 |
EKKVHSERSA | ESCATWKVQK | EEKLIGLMNN | EAAQESTRRR | QKYQESQEPL | NEVNSFPQKI |
430 | 440 | 450 | 460 | 470 | 480 |
SYTQFPNSFY | EPHQDFTSPD | IFKKSRSPSW | YKYTSTVSTG | ITDLESSTGL | WPTISQFTLS |
490 | 500 | ||||
EETNADVYYY | RIIIPVLLML | VFLALFFL |