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.H184L

c.551A>T

Surrounding Variants

1 paper

NM_001367721.1

p.H184Y

c.550C>T

1 paper

NM_001367721.1

p.M186V

c.556A>G

1 paper

NM_001367721.1

p.G181_T182insGAC

c.541_545ins9

1 paper

NM_001367721.1

p.R179delFs

c.535delG

1 paper

NM_001367721.1

p.F185_E189delFs

c.553_565del13

1 paper

NM_001367721.1

p.R179fs

c.535_536fs

2 papers

NM_001367721.1

p.R179C

c.535C>T

1 paper

NM_001367721.1

p.F185_E189del5

c.553_566del15

2 papers

NM_001367721.1

p.G178R

c.532G>C

2 papers

NM_001367721.1

p.G178R

c.532G>A

1 paper

NM_001367721.1

p.K192R

c.575A>G

1 paper

NM_001367721.1

p.K192delFs

c.575_576delTT