Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.L115V

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
3 papers
NM_198407.2
p.L115V
c.343C>G
Surrounding Variants
1 paper
NM_198407.2
p.D113N
c.337G>A
1 paper
NM_198407.2
p.K117N
c.351A>T
1 paper
NM_198407.2
p.K117N
c.351A>C
1 paper
NM_198407.2
p.F111F
c.333C>T
2 papers
NM_198407.2
p.L118L
c.354C>T
1 paper
NM_198407.2
p.N110H
c.328A>C
2 papers
NM_198407.2
p.R107_W109del3
c.319_326del9
1 paper
NM_198407.2
p.Q120H
c.360A>T
1 paper
NM_198407.2
p.Q120H
c.360A>C
6 papers
NM_198407.2
p.P108L
c.323C>T
1 paper
NM_198407.2
p.P108H
c.323C>A
1 paper
NM_198407.2
p.R107delFs
c.319delG
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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."