Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.Q44*

SIGMAR1

169 papers

RefSeq Summary

This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular func...

Pfam Domains

ERG2_Sigma1Raa 13–129UCSCERG2 and Sigma1 receptor like protein
ERG2_Sigma1Raa 13–217UCSCERG2 and Sigma1 receptor like protein

Gene Aliases

HGNC Name

sigma non-opioid intracellular receptor 1

HGNC Previous Symbol

OPRS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005866.4
p.Q44*
c.130C>T
Surrounding Variants
2 papers
NM_005866.4
p.I42R
c.125T>G
1 paper
NM_005866.4
p.E41G
c.122A>G
1 paper
NM_005866.4
p.R47Q
c.140G>A
1 paper
NM_005866.4
p.R47R
c.141G>A
1 paper
NM_005866.4
p.E40G
c.119A>G
1 paper
NM_005866.4
p.E40K
c.118G>A
1 paper
NM_005866.4
p.Q38R
c.113A>G
1 paper
NM_005866.4
p.F37delFs
c.109_110delAA
15 papers
NM_005866.4
p.G51Splc
c.151+1G>T
1 paper
NM_005866.4
p.L28R
c.83T>G
2 papers
NM_005866.4
p.V25delFs
c.73delC
2 papers
NM_005866.4
p.V25fs
c.73_74fs
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