Varaico: Literature-Extracted Genetic Variants

CASK

310 papers

RefSeq Summary

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold protein...

Pfam Domains

Pkinaseaa 12–276UCSCProtein kinase domain

L27aa 347–400UCSCL27 domain

L27aa 406–457UCSCL27 domain

PDZaa 490–568UCSCPDZ domain

SH3_2aa 616–679UCSCVariant SH3 domain

Guanylate_kinaa 738–912UCSCGuanylate kinase

Gene Aliases

HGNC Name

calcium/calmodulin dependent serine protein kinase

HGNC Previous Symbol

TNRC8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367721.1

p.S395A

c.1183T>G

Surrounding Variants

13 papers

NM_001367721.1

p.P396S

c.1186C>T

1 paper

NM_001367721.1

p.I390S

c.1169T>G

1 paper

NM_001367721.1

p.P401S

c.1201C>T

1 paper

NM_001367721.1

p.D388E

c.1164C>G

1 paper

NM_001367721.1

p.D388E

c.1164C>A

1 paper

NM_001367721.1

p.N400_P401del2

c.1198_1202del6

1 paper

NM_001367721.1

p.Y387H

c.1159T>C

1 paper

NM_001367721.1

p.A405T

c.1213G>A

1 paper

NM_001367721.1

p.Q407*

c.1219C>T

1 paper

NM_001367721.1

p.E411K

c.1231G>A

1 paper

NM_001367721.1

p.E411_V412Splc

c.1233+2T>C

1 paper

NM_001367721.1

p.S417_Y419delFs

c.1249_1255del7