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.K660*

c.1978A>T

Surrounding Variants

8 papers

NM_001367721.1

p.G659D

c.1976G>A

1 paper

NM_001367721.1

p.L661fs

c.1981_1982fs

1 paper

NM_001367721.1

p.L661delFs

c.1981delG

1 paper

NM_001367721.1

p.W657del1

c.1969_1971delCCA

3 papers

NM_001367721.1

p.W657*

c.1971G>A

3 papers

NM_001367721.1

p.W657*

c.1970G>A

4 papers

NM_001367721.1

p.W656*

c.1968G>A

4 papers

NM_001367721.1

p.W656*

c.1967G>A

2 papers

NM_001367721.1

p.N655D

c.1963A>G

1 paper

NM_001367721.1

p.N666Y

c.1996A>T

1 paper

NM_001367721.1

p.I672V

c.2014A>G

1 paper

NM_001367721.1

p.V642_Q647delFs

c.1926_1941del16