Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.Q260P

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.Q260P
c.779A>C
Surrounding Variants
1 paper
NM_198407.2
p.Q260H
c.780A>T
1 paper
NM_198407.2
p.T261A
c.781A>G
1 paper
NM_198407.2
p.M264fs
c.790_791fs
1 paper
NM_198407.2
p.A266Splc
c.796+1G>A
1 paper
NM_198407.2
p.L253F
c.757C>T
1 paper
NM_198407.2
p.S252A
c.754T>G
8 papers
NM_198407.2
p.D246A
c.737A>C
1 paper
NM_198407.2
p.G245D
c.734G>A
1 paper
NM_198407.2
p.R243S
c.729G>T
1 paper
NM_004122.2
p.A277P
c.829G>C
1 paper
NM_198407.2
p.R242R
c.726G>A
1 paper
NM_198407.2
p.R237R
c.711G>A
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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."