Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.A204E

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
48 papers
NM_198407.2
p.A204E
c.611C>A
Surrounding Variants
1 paper
NM_198407.2
p.A204V
c.611C>T
1 paper
NM_198407.2
p.A204S
c.610G>T
1 paper
NM_198407.2
p.V205A
c.614T>C
1 paper
NM_198407.2
p.V205E
c.614T>A
1 paper
NM_198407.2
p.E202A
c.605A>C
1 paper
NM_198407.2
p.E202Q
c.604G>C
2 papers
NM_198407.2
p.E202K
c.604G>A
1 paper
NM_198407.2
p.S207A
c.619T>G
2 papers
NM_198407.2
p.T201A
c.601A>G
1 paper
NM_198407.2
p.G208R
c.622G>C
1 paper
NM_198407.2
p.G208R
c.622G>A
2 papers
NM_198407.2
p.G208A
c.623G>C
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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."