Varaico: Literature-Extracted Genetic Variants

Gene:CSNK1G1
Variant:p.R134*

CSNK1G1

50 papers

RefSeq Summary

This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role ...

Pfam Domains

Pkinaseaa 44–304UCSCProtein kinase domain
CK1gamma_Caa 331–368UCSCCasein kinase 1 gamma C terminal
CK1gamma_Caa 363–392UCSCCasein kinase 1 gamma C terminal

Gene Aliases

HGNC Name

casein kinase 1 gamma 1

HGNC Alias Symbol

CK1gamma1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022048.5
p.R134*
c.400C>T
Surrounding Variants
1 paper
NM_022048.5
p.R134L
c.401G>T
1 paper
NM_022048.5
p.D130G
c.389A>G
2 papers
NM_022048.5
p.T140M
c.419C>T
1 paper
NM_022048.5
p.L148_L149Splc
c.444+1G>A
1 paper
NM_022048.5
p.V117E
c.350T>A
1 paper
NM_022048.5
p.G111W
c.331G>T
1 paper
NM_022048.5
p.Q103H
c.309G>T
1 paper
NM_022048.5
p.Q103H
c.309G>C
1 paper
NM_022048.5
p.P102P
c.306A>T
1 paper
NM_022048.5
p.L148_L149Splc
c.445-2A>G
1 paper
NM_022048.5
p.R163L
c.488G>T
1 paper
NM_022048.5
p.K166R
c.497A>G
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