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.S417_Y419delFs

c.1249_1255del7

Surrounding Variants

1 paper

NM_001367721.1

p.P420fs

c.1258_1259fs

1 paper

NM_001367721.1

p.D424Y

c.1270G>T

1 paper

NM_001367721.1

p.P420_N423delFs

c.1259_1269del11

3 papers

NM_001367721.1

p.R430C

c.1288C>T

4 papers

NM_001367721.1

p.R430H

c.1289G>A

1 paper

NM_001367721.1

p.Q434*

c.1300C>T

1 paper

NM_001367721.1

p.M438L

c.1312A>T

1 paper

NM_001367721.1

p.M438L

c.1312A>C

1 paper

NM_001126055.3

p.M432_A433Splc

c.1296+1G>T

1 paper

NM_001367721.1

p.E411_V412Splc

c.1233+2T>C

1 paper

NM_001367721.1

p.E411K

c.1231G>A

1 paper

NM_001367721.1

p.Q407*

c.1219C>T