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.L252_R255del4

c.754_764del12

Surrounding Variants

5 papers

NM_001367721.1

p.R255H

c.764G>A

4 papers

NM_001367721.1

p.R255C

c.763C>T

1 paper

NM_001367721.1

p.R254H

c.761G>A

1 paper

NM_001367721.1

p.R254C

c.760C>T

1 paper

NM_001367721.1

p.M256_L257del1

c.768_770delAGC

1 paper

NM_001367721.1

p.R255_L257del3

c.763_770del9

1 paper

NM_001367721.1

p.V253I

c.757G>A

1 paper

NM_001367721.1

p.L252P

c.755T>C

1 paper

NM_001367721.1

p.L252V

c.754C>G

1 paper

NM_001367721.1

p.A249D

c.746C>A

1 paper

NM_001367721.1

p.S248delFs

c.743_744delAC

1 paper

NM_001367721.1

p.A249S

c.745G>T