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

3 papers

NM_001367721.1

p.P625L

c.1874C>T

Surrounding Variants

1 paper

NM_001367721.1

p.D624_P625delins

c.1872_1874delinsGCT

1 paper

NM_001367721.1

p.D624E

c.1872T>G

1 paper

NM_001367721.1

p.D624E

c.1872T>A

1 paper

NM_001367721.1

p.Y623*

c.1869T>G

1 paper

NM_001367721.1

p.Y623*

c.1869T>A

1 paper

NM_001367721.1

p.Y623C

c.1868A>G

1 paper

NM_001367721.1

p.D628H

c.1882G>C

1 paper

NM_001367721.1

p.E622D

c.1866A>T

1 paper

NM_001367721.1

p.E622D

c.1866A>C

1 paper

NM_001367721.1

p.E622*

c.1864G>T

1 paper

NM_001367721.1

p.L630L

c.1890C>T

3 papers

NM_001367721.1

p.R618K

c.1853G>A