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

2 papers

NM_001367721.1

p.R560fs

c.1678_1679fs

Surrounding Variants

2 papers

NM_001367721.1

p.M559insFs

c.1677dupG

1 paper

NM_001367721.1

p.S562fs

c.1684_1685fs

1 paper

NM_001367721.1

p.S562insFs

c.1685dupG

1 paper

NM_001367721.1

p.S562fs

c.1684_1685fs

1 paper

NM_001367721.1

p.Y571fs

c.1711_1712fs

1 paper

NM_001367721.1

p.Y571C

c.1712A>G

1 paper

NM_001367721.1

p.Y571insFs

c.1711dupT

1 paper

NM_001367721.1

p.T573I

c.1718C>T

2 papers

NM_001367721.1

p.Q574insFs

c.1721dupA

2 papers

NM_001367721.1

p.S575fs

c.1723_1724fs

1 paper

NM_001367721.1

p.S576L

c.1727C>T

1 paper

NM_001367721.1

p.S575_S576del2

c.1723_1727del6