Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.D191A

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.D191A
c.572A>C
Surrounding Variants
3 papers
NM_198407.2
p.D191N
c.571G>A
1 paper
NM_198407.2
p.T190N
c.569C>A
1 paper
NM_198407.2
p.W193*
c.578G>A
1 paper
NM_198407.2
p.W193*
c.579G>A
3 papers
NM_198407.2
p.D194N
c.580G>A
1 paper
NM_198407.2
p.N188N
c.564C>T
1 paper
NM_198407.2
p.D194A
c.581A>C
1 paper
NM_198407.2
p.E187D
c.561G>T
1 paper
NM_198407.2
p.E187D
c.561G>C
2 papers
NM_198407.2
p.E187A
c.560A>C
1 paper
NM_198407.2
p.E185D
c.555G>T
1 paper
NM_198407.2
p.E197Q
c.589G>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."