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

6 papers

NM_001367721.1

p.Q692*

c.2074C>T

Surrounding Variants

3 papers

NM_001367721.1

p.Q694*

c.2080C>T

1 paper

NM_001367721.1

p.K689*

c.2065A>T

1 paper

NM_001367721.1

p.W700*

c.2099G>A

1 paper

NM_001367721.1

p.W700*

c.2100G>A

1 paper

NM_001367721.1

p.F701fs

c.2101_2102fs

2 papers

NM_001367721.1

p.F701delFs

c.2103delA

1 paper

NM_001367721.1

p.R681*

c.2041C>T

1 paper

NM_001367721.1

p.R681R

c.2041C>A

7 papers

NM_001367721.1

p.W680S

c.2039G>C

2 papers

NM_001367721.1

p.W680Splc

c.2040-1G>A

1 paper

NM_001367721.1

p.K704*

c.2110A>T

2 papers

NM_001367721.1

p.W680Splc

c.2040-2A>G