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

3 papers

NM_001367721.1

p.G521V

c.1562G>T

Surrounding Variants

13 papers

NM_001367721.1

p.M519T

c.1556T>C

1 paper

NM_001367721.1

p.R526fs

c.1576_1577fs

1 paper

NM_001367721.1

p.R526fs

c.1576_1577fs

3 papers

NM_001367721.1

p.R526delFs

c.1577delC

2 papers

NM_001367721.1

p.M507I

c.1521G>T

2 papers

NM_001367721.1

p.M507I

c.1521G>C

2 papers

NM_001367721.1

p.M507I

c.1521G>A

1 paper

NM_001367721.1

p.M501_G502Splc

c.1504-31T>A

1 paper

NM_001367721.1

p.G528A

c.1583G>C

1 paper

NM_001367721.1

p.T529A

c.1585A>G

1 paper

NM_001367721.1

p.H531Y

c.1591C>T

1 paper

NM_001367721.1

p.H531N

c.1591C>A