Varaico: Literature-Extracted Genetic Variants

Gene:GHRL
Variant:p.G14S

GHRL

300 papers

RefSeq Summary

This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeo...

Pfam Domains

Motilin_ghrelinaa 24–51UCSCMotilin/ghrelin
Motilin_ghrelinaa 24–51UCSCMotilin/ghrelin
Motilin_ghrelinaa 24–51UCSCMotilin/ghrelin
Motilin_assocaa 57–115UCSCMotilin/ghrelin-associated peptide

Gene Aliases

HGNC Name

ghrelin and obestatin prepropeptide

HGNC Alias Symbols

MTLRP; ghrelin; obestatin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016362.5
p.G14S
c.40G>A
Surrounding Variants
1 paper
NM_016362.5
p.L12L
c.36C>T
1 paper
NM_016362.5
p.L12fs
c.34_35fs
1 paper
NM_016362.5
p.L12F
c.34C>T
1 paper
NM_016362.5
p.S9G
c.25A>G
1 paper
NM_016362.5
p.C8*
c.24C>A
1 paper
NM_016362.5
p.V7G
c.20T>G
1 paper
NM_016362.5
p.V7A
c.20T>C
3 papers
NM_016362.5
p.V7I
c.19G>A
1 paper
NM_016362.5
p.G5G
c.15G>A
1 paper
NM_016362.5
p.A23T
c.67G>A
1 paper
NM_016362.5
p.A23V
c.68C>T
1 paper
NM_016362.5
p.S25S
c.75C>T
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