Varaico: Literature-Extracted Genetic Variants

Gene:GHSR
Variant:p.D99E

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.D99E
c.297C>A
Surrounding Variants
1 paper
NM_198407.2
p.D99E
c.297C>G
2 papers
NM_198407.2
p.D99A
c.296A>C
3 papers
NM_198407.2
p.D99N
c.295G>A
2 papers
NM_198407.2
p.P97L
c.290C>T
1 paper
NM_198407.2
p.R102P
c.305G>C
1 paper
NM_198407.2
p.R102H
c.305G>A
3 papers
NM_198407.2
p.L103F
c.307C>T
1 paper
NM_198407.2
p.W104*
c.311G>A
1 paper
NM_198407.2
p.Q105Q
c.315G>A
1 paper
NM_198407.2
p.R107fs
c.319_320fs
1 paper
NM_198407.2
p.R107delFs
c.319delG
6 papers
NM_198407.2
p.P108L
c.323C>T
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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."