Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.E102Q

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
42 papers
NM_005866.4
p.E102Q
c.304G>C
Surrounding Variants
1 paper
NM_005866.4
p.E102A
c.305A>C
1 paper
NM_005866.4
p.E102D
c.306G>T
1 paper
NM_005866.4
p.E102D
c.306G>C
1 paper
NM_005866.4
p.Y103*
c.309T>G
1 paper
NM_005866.4
p.Y103*
c.309T>A
1 paper
NM_005866.4
p.S99S
c.297G>T
1 paper
NM_005866.4
p.S99L
c.296C>T
1 paper
NM_005866.4
p.L96P
c.287T>C
12 papers
NM_005866.4
p.L95fs
c.283_284fs
11 papers
NM_005866.4
p.L95insFs
c.283dupC
3 papers
NM_005866.4
p.L95fs
c.283_284fs
1 paper
NM_005866.4
p.L95F
c.283C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."