Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.T350S

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.T350S
c.1048A>T
Surrounding Variants
3 papers
NM_198407.2
p.T350S
c.1049C>G
1 paper
NM_198407.2
p.S349A
c.1045T>G
1 paper
NM_198407.2
p.E354Q
c.1060G>C
1 paper
NM_198407.2
p.S355I
c.1064G>T
5 papers
NM_198407.2
p.A358T
c.1072G>A
1 paper
NM_198407.2
p.V334M
c.1000G>A
2 papers
NM_198407.2
p.R331Q
c.992G>A
1 paper
NM_198407.2
p.I318N
c.953T>A
1 paper
NM_198407.2
p.A316G
c.947C>G
1 paper
NM_198407.2
p.A316T
c.946G>A
1 paper
NM_198407.2
p.F309I
c.925T>A
1 paper
NM_198407.2
p.S308S
c.924C>G
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