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.K223R

c.668A>G

Surrounding Variants

1 paper

NM_001367721.1

p.E224K

c.670G>A

1 paper

NM_001367721.1

p.R225fs

c.673_674fs

7 papers

NM_001367721.1

p.F227_E228del2

c.679_683del6

1 paper

NM_001367721.1

p.S214insFs

c.642dupT

1 paper

NM_001367721.1

p.S214N

c.641G>A

1 paper

NM_001367721.1

p.L213R

c.638T>G

1 paper

NM_001367721.1

p.L213F

c.637C>T

3 papers

NM_001367721.1

p.K236fs

c.706_707fs

5 papers

NM_001367721.1

p.Y235_K236delFs

c.704_708del5

1 paper

NM_001367721.1

p.K236_M237Splc

c.708+2T>G

13 papers

NM_001367721.1

p.L209P

c.626T>C

2 papers

NM_001367721.1

p.G206D

c.617G>A