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.T548fs

c.1642_1643fs

Surrounding Variants

3 papers

NM_001367721.1

p.Q547*

c.1639C>T

1 paper

NM_001367721.1

p.T548_V549delFs

c.1644_1645delCT

1 paper

NM_001367721.1

p.V549fs

c.1645_1646fs

1 paper

NM_001367721.1

p.S543I

c.1628G>T

2 papers

NM_001367721.1

p.L556R

c.1667T>G

3 papers

NM_001367721.1

p.L556_R557Splc

c.1668+1G>A

8 papers

NM_001367721.1

p.R537*

c.1609C>T

NM_001126055.3

p.R531*

c.1591C>T

1 paper

NM_001367721.1

p.H531Y

c.1591C>T

1 paper

NM_001367721.1

p.H531N

c.1591C>A

1 paper

NM_001367721.1

p.T529A

c.1585A>G

1 paper

NM_001367721.1

p.G528A

c.1583G>C

2 papers

NM_001367721.1

p.R560fs

c.1678_1679fs