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_001126055.3

p.V690Splc

c.2068+1G>A

Surrounding Variants

2 papers

NM_001367721.1

p.D710_A718del9

c.2128_2153del27

1 paper

NM_001367721.1

p.A714delFs

c.2141delG

1 paper

NM_001367721.1

p.Y712*

c.2136T>G

1 paper

NM_001367721.1

p.Y712*

c.2136T>A

12 papers

NM_001367721.1

p.D710G

c.2129A>G

5 papers

NM_001367721.1

p.K704_Y708del5

c.2110_2123del15

1 paper

NM_001367721.1

p.K709R

c.2126A>G

1 paper

NM_001367721.1

p.Y708S

c.2123A>C

1 paper

NM_001367721.1

p.Q707*

c.2119C>T

1 paper

NM_001367721.1

p.K704*

c.2110A>T

2 papers

NM_001367721.1

p.F701delFs

c.2103delA

1 paper

NM_001367721.1

p.F701fs

c.2101_2102fs