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

1–12 of 471 variants

22 papers

NM_001367721.1

p.R28L

c.83G>T

20 papers

NM_001367721.1

p.Y268H

c.802T>C

15 papers

NM_001367721.1

p.R27*

c.79C>T

13 papers

NM_001367721.1

p.L209P

c.626T>C

13 papers

NM_001367721.1

p.K305K

c.915G>A

13 papers

NM_001367721.1

p.P396S

c.1186C>T

13 papers

NM_001367721.1

p.M519T

c.1556T>C

12 papers

NM_001367721.1

p.R28*

c.82C>T

12 papers

NM_001367721.1

p.R639*

c.1915C>T

12 papers

NM_001367721.1

p.D710G

c.2129A>G

11 papers

NM_001367721.1

p.R106*

c.316C>T

9 papers

NM_001367721.1

p.M1V

c.1A>G