Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.Q2P

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
18 papers
NM_005866.4
p.Q2P
c.5A>C
Surrounding Variants
1 paper
NM_005866.4
p.Q2Q
c.6G>A
1 paper
NM_005866.4
p.Q2K
c.4C>A
1 paper
NM_005866.4
p.A4T
c.10G>A
3 papers
NM_005866.4
p.A4V
c.11C>T
1 paper
NM_005866.4
p.V5delFs
c.13delC
1 paper
NM_005866.4
p.V5fs
c.13_14fs
1 paper
NM_005866.4
p.R7W
c.19C>T
1 paper
NM_005866.4
p.G6insFs
c.18dupC
2 papers
NM_005866.4
p.R7delFs
c.19delG
1 paper
NM_005866.4
p.V5_R7insFs
c.14_20dup7
1 paper
NM_005866.4
p.R7fs
c.19_20fs
1 paper
NM_005866.4
p.R8fs
c.22_23fs
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