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.R302S

c.906G>C

Surrounding Variants

1 paper

NM_001367721.1

p.R302S

c.906G>T

1 paper

NM_001367721.1

p.A300E

c.899C>A

1 paper

NM_001367721.1

p.K305insFs

c.913_914dupAA

13 papers

NM_001367721.1

p.K305K

c.915G>A

1 paper

NM_001367721.1

p.N299S

c.896A>G

1 paper

NM_001367721.1

p.P289_E290delFs

c.867_868delCT

2 papers

NM_001367721.1

p.E290*

c.868G>T

1 paper

NM_001367721.1

p.D280_A283del4

c.838_848del12

1 paper

NM_001367721.1

p.A283T

c.847G>A

2 papers

NM_001367721.1

p.Y282*

c.846C>G

2 papers

NM_001367721.1

p.Y282*

c.846C>A

1 paper

NM_001367721.1

p.R281del1

c.841_843delACG