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.C633Y

c.1898G>A

Surrounding Variants

5 papers

NM_001367721.1

p.P632insFs

c.1896dupC

2 papers

NM_001367721.1

p.C633fs

c.1897_1898fs

2 papers

NM_001367721.1

p.C633fs

c.1897_1898fs

2 papers

NM_001367721.1

p.L630_P632delFs

c.1889_1895del7

1 paper

NM_001367721.1

p.L630L

c.1890C>T

5 papers

NM_001367721.1

p.G637D

c.1910G>A

1 paper

NM_001367721.1

p.D628H

c.1882G>C

12 papers

NM_001367721.1

p.R639*

c.1915C>T

3 papers

NM_001367721.1

p.R641K

c.1922G>A

3 papers

NM_001367721.1

p.P625L

c.1874C>T

1 paper

NM_001367721.1

p.D624_P625delins

c.1872_1874delinsGCT

1 paper

NM_001367721.1

p.D624E

c.1872T>G