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.W242*

c.725G>A

Surrounding Variants

3 papers

NM_001367721.1

p.W242R

c.724T>A

1 paper

NM_001367721.1

p.W242*

c.726G>A

1 paper

NM_001367721.1

p.R240T

c.719G>C

1 paper

NM_001367721.1

p.M237_R240del0

c.710_718del9

1 paper

NM_001367721.1

p.S243_H244del2

c.727_731del6

1 paper

NM_001367721.1

p.S246Y

c.737C>A

1 paper

NM_001367721.1

p.K236_M237Splc

c.709-1G>C

1 paper

NM_001367721.1

p.K236_M237Splc

c.709-2A>G

1 paper

NM_001367721.1

p.A249S

c.745G>T

1 paper

NM_001367721.1

p.A249D

c.746C>A

1 paper

NM_001367721.1

p.S248delFs

c.743_744delAC

1 paper

NM_001367721.1

p.L252V

c.754C>G