Varaico: Literature-Extracted Genetic Variants

Gene:GAK
Variant:p.S194R

GAK

189 papers

RefSeq Summary

In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the...

Pfam Domains

Pkinaseaa 40–313UCSCProtein kinase domain
PTEN_C2aa 570–709UCSCC2 domain of PTEN tumour-suppressor protein

Gene Aliases

HGNC Name

cyclin G associated kinase

HGNC Alias Symbol

DNAJC26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005255.4
p.S194R
c.582T>G
Surrounding Variants
1 paper
NM_005255.4
p.S194R
c.582T>A
1 paper
NM_005255.4
p.S194fs
c.580_581fs
1 paper
NM_005255.4
p.S194R
c.580A>C
1 paper
NM_005255.4
p.T196M
c.587C>T
1 paper
NM_005255.4
p.T197I
c.590C>T
1 paper
NM_005255.4
p.T197fs
c.589_590fs
1 paper
NM_005255.4
p.D191A
c.572A>C
1 paper
NM_005255.4
p.C190S
c.569G>C
1 paper
NM_005255.4
p.C190S
c.568T>A
1 paper
NM_005255.4
p.S199L
c.596C>T
1 paper
NM_005255.4
p.P202S
c.604C>T
1 paper
NM_005255.4
p.P202L
c.605C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."