Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.V214A

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.V214A
c.641T>C
Surrounding Variants
1 paper
NM_198407.2
p.V214L
c.640G>T
1 paper
NM_198407.2
p.V214L
c.640G>C
1 paper
NM_198407.2
p.V214insFs
c.642dupG
1 paper
NM_198407.2
p.M213I
c.639G>T
1 paper
NM_198407.2
p.M213I
c.639G>C
1 paper
NM_198407.2
p.M213I
c.639G>A
1 paper
NM_198407.2
p.M213K
c.638T>A
1 paper
NM_198407.2
p.V216L
c.646G>T
1 paper
NM_198407.2
p.V216L
c.646G>C
1 paper
NM_198407.2
p.V216A
c.647T>C
2 papers
NM_198407.2
p.S217A
c.649T>G
1 paper
NM_198407.2
p.S217P
c.649T>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."