Varaico: Literature-Extracted Genetic Variants

Gene:SIK1
Variant:p.L741H

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.L741H
c.2222T>A
Surrounding Variants
1 paper
NM_173354.5
p.L741R
c.2222T>G
1 paper
NM_173354.5
p.L741P
c.2222T>C
1 paper
NM_173354.5
p.P742L
c.2225C>T
1 paper
NM_173354.5
p.A740T
c.2218G>A
2 papers
NM_173354.5
p.A743T
c.2227G>A
1 paper
NM_173354.5
p.T739_P745ins2
c.2217_2234dup18
1 paper
NM_173354.5
p.A740_P746ins2
c.2219_2236dup18
1 paper
NM_173354.5
p.G735D
c.2204G>A
1 paper
NM_173354.5
p.P745_P747delins
c.2235_2241delinsAATTCCC
1 paper
NM_173354.5
p.P746_A750delins
c.2236_2248delinsCTTC
1 paper
NM_173354.5
p.V744_A750delins
c.2232_2248delinsTAAAATTC
1 paper
NM_173354.5
p.P747_A750delins
c.2239_2250delinsCCG
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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."