Varaico: Literature-Extracted Genetic Variants

Gene:GHRL
Variant:p.E60G

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
1 paper
NM_016362.5
p.E60G
c.179A>G
Surrounding Variants
1 paper
NM_016362.5
p.P59S
c.175C>T
1 paper
NM_016362.5
p.G62V
c.185G>T
1 paper
NM_016362.5
p.L57delFs
c.171delG
3 papers
NM_016362.5
p.L57L
c.171C>T
1 paper
NM_016362.5
p.L57R
c.170T>G
1 paper
NM_016362.5
p.E66K
c.196G>A
1 paper
NM_016362.5
p.A54T
c.160G>A
1 paper
NM_016362.5
p.A52T
c.154G>A
1 paper
NM_016362.5
p.E69K
c.205G>A
75 papers
NM_016362.5
p.R51Q
c.152G>A
1 paper
NM_016362.5
p.E69E
c.207G>A
2 papers
NM_016362.5
p.R51*
c.151C>T
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