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.Y268D

c.802T>G

Surrounding Variants

20 papers

NM_001367721.1

p.Y268H

c.802T>C

1 paper

NM_001367721.1

p.T266ins2

c.796_797ins6

1 paper

NM_001367721.1

p.I265F

c.793A>T

1 paper

NM_001367721.1

p.R264K

c.791G>A

1 paper

NM_001367721.1

p.A270_H273Fs

c.809_817delinsTFs

1 paper

NM_001367721.1

p.H273R

c.818A>G

1 paper

NM_001367721.1

p.P274P

c.822A>T

1 paper

NM_001367721.1

p.W275*

c.824G>A

1 paper

NM_001367721.1

p.W275*

c.825G>A

2 papers

NM_001367721.1

p.K277_E278Splc

c.831+1G>A

1 paper

NM_001367721.1

p.M256_L257del1

c.768_770delAGC

1 paper

NM_001367721.1

p.R255_L257del3

c.763_770del9