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.V26A

c.77T>C

Surrounding Variants

1 paper

NM_001367721.1

p.V26L

c.76G>T

1 paper

NM_001367721.1

p.V26L

c.76G>C

15 papers

NM_001367721.1

p.R27*

c.79C>T

12 papers

NM_001367721.1

p.R28*

c.82C>T

22 papers

NM_001367721.1

p.R28L

c.83G>T

2 papers

NM_001367721.1

p.F23fs

c.67_68fs

5 papers

NM_001367721.1

p.F23delFs

c.68delA

1 paper

NM_001367721.1

p.C29Y

c.86G>A

2 papers

NM_001367721.1

p.F23fs

c.67_68fs

1 paper

NM_001367721.1

p.P22A

c.64C>G

1 paper

NM_001367721.1

p.G21D

c.62G>A

1 paper

NM_001367721.1

p.G21R

c.61G>C