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.E102G

c.305A>G

Surrounding Variants

1 paper

NM_001367721.1

p.E102D

c.306A>T

1 paper

NM_001367721.1

p.C100delFs

c.298_299delCA

1 paper

NM_001367721.1

p.C100fs

c.298_299fs

1 paper

NM_001367721.1

p.K105N

c.315G>T

1 paper

NM_001367721.1

p.K105insFs

c.313_314insA

1 paper

NM_001367721.1

p.K105N

c.315G>C

11 papers

NM_001367721.1

p.R106*

c.316C>T

4 papers

NM_001367721.1

p.R106G

c.316C>G

6 papers

NM_001367721.1

p.R106P

c.317G>C

1 paper

NM_001367721.1

p.D98N

c.292G>A

1 paper

NM_001367721.1

p.M94_D95delFs

c.280_283del4

1 paper

NM_001367721.1

p.A109T

c.325G>A