Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.P148A

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.P148A
c.442C>G
Surrounding Variants
7 papers
NM_198407.2
p.L149L
c.447C>G
1 paper
NM_198407.2
p.R141P
c.422G>C
2 papers
NM_198407.2
p.G158E
c.473G>A
7 papers
NM_198407.2
p.R159R
c.477G>A
2 papers
NM_198407.2
p.V160M
c.478G>A
2 papers
NM_198407.2
p.I134M
c.402C>G
4 papers
NM_198407.2
p.I134T
c.401T>C
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.Y128S
c.383A>C
4 papers
NM_198407.2
p.A169T
c.505G>A
1 paper
NM_198407.2
p.E124D
c.372G>T
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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."