Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.F279L

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
22 papers
NM_198407.2
p.F279L
c.837C>A
Surrounding Variants
22 papers
NM_198407.2
p.F279L
c.837C>G
22 papers
NM_198407.2
p.F279L
c.835T>C
1 paper
NM_198407.2
p.H280Q
c.840C>G
1 paper
NM_198407.2
p.H280Q
c.840C>A
2 papers
NM_198407.2
p.V281I
c.841G>A
1 paper
NM_198407.2
p.L277L
c.831C>T
1 paper
NM_198407.2
p.L277F
c.829C>T
1 paper
NM_198407.2
p.R283*
c.847C>T
1 paper
NM_198407.2
p.C275C
c.825C>T
1 paper
NM_198407.2
p.Y284F
c.851A>T
1 paper
NM_198407.2
p.I273I
c.819C>T
2 papers
NM_198407.2
p.F286S
c.857T>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."