Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.E124A

GHSR

186 papers

RefSeq Summary

This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are exp...

Pfam Domains

7tm_1aa 60–323UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

growth hormone secretagogue receptor

HGNC Alias Symbols

GHS-R1a; GHS-R; GHSR-1a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_198407.2
p.E124A
c.371A>C
Surrounding Variants
1 paper
NM_198407.2
p.E124D
c.372G>T
3 papers
NM_198407.2
p.E124Q
c.370G>C
1 paper
NM_198407.2
p.E124D
c.372G>C
1 paper
NM_198407.2
p.S123G
c.367A>G
1 paper
NM_198407.2
p.Q120H
c.360A>T
1 paper
NM_198407.2
p.Q120H
c.360A>C
1 paper
NM_198407.2
p.Y128S
c.383A>C
2 papers
NM_198407.2
p.L118L
c.354C>T
2 papers
NM_198407.2
p.V131L
c.391G>T
2 papers
NM_198407.2
p.V131L
c.391G>C
1 paper
NM_198407.2
p.K117N
c.351A>T
1 paper
NM_198407.2
p.K117N
c.351A>C
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."