Varaico: Literature-Extracted Genetic Variants

Gene:SIK1
Variant:p.R240C

SIK1

131 papers

RefSeq Summary

This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily ...

Pfam Domains

Pkinaseaa 27–278UCSCProtein kinase domain
UBA_SIK3aa 306–344UCSCProtein kinase SIK3 UBA domain

Gene Aliases

HGNC Name

salt inducible kinase 1

HGNC Previous Symbol

SNF1LK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173354.5
p.R240C
c.718C>T
Surrounding Variants
1 paper
NM_173354.5
p.R240H
c.719G>A
1 paper
NM_173354.5
p.L232_R233Fs
c.695_699delinsAGGFs
1 paper
NM_173354.5
p.L232fs
c.694_695fs
1 paper
NM_173354.5
p.V216I
c.646G>A
1 paper
NM_173354.5
p.L205P
c.614T>C
1 paper
NM_173354.5
p.P192L
c.575C>T
1 paper
NM_173354.5
p.P192S
c.574C>T
1 paper
NM_173354.5
p.A191T
c.571G>A
1 paper
NM_173354.5
p.P188L
c.563C>T
2 papers
NM_173354.5
p.P188R
c.563C>G
3 papers
NM_173354.5
p.T182A
c.544A>G
1 paper
NM_173354.5
p.E178*
c.532G>T
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