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.G53E

c.158G>A

Surrounding Variants

1 paper

NM_001367721.1

p.G53V

c.158G>T

1 paper

NM_001367721.1

p.P52S

c.154C>T

1 paper

NM_001367721.1

p.L54insFs

c.161dupT

1 paper

NM_001367721.1

p.E57delFs

c.171delT

1 paper

NM_001367721.1

p.D58Splc

c.172+1G>A

1 paper

NM_001367721.1

p.F48V

c.142T>G

1 paper

NM_001367721.1

p.A46T

c.136G>A

1 paper

NM_001367721.1

p.D44A

c.131A>C

1 paper

NM_001367721.1

p.V43insFs

c.128_129dupTT

1 paper

NM_001367721.1

p.D44N

c.130G>A

1 paper

NM_001367721.1

p.K41T

c.122A>C

1 paper

NM_001367721.1

p.F38delFs

c.112delA