Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.A48A

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
1 paper
NM_198407.2
p.A48A
c.144C>G
Surrounding Variants
4 papers
NM_198407.2
p.A48A
c.144C>T
1 paper
NM_198407.2
p.T49T
c.147C>T
1 paper
NM_198407.2
p.C50C
c.150C>T
2 papers
NM_198407.2
p.A52T
c.154G>A
1 paper
NM_198407.2
p.A44V
c.131C>T
6 papers
NM_198407.2
p.G57G
c.171C>T
1 paper
NM_198407.2
p.P39H
c.116C>A
2 papers
NM_198407.2
p.I58V
c.172A>G
1 paper
NM_198407.2
p.I58M
c.174C>G
1 paper
NM_198407.2
p.F38L
c.114C>G
3 papers
NM_198407.2
p.Q36_L37del1
c.107_109delGCT
1 paper
NM_198407.2
p.L34M
c.100C>A
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."