Varaico: Literature-Extracted Genetic Variants

Gene:GHRL
Variant:p.Q90L

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
44 papers
NM_016362.5
p.Q90L
c.269A>T
Surrounding Variants
1 paper
NM_016362.5
p.Q90R
c.269A>G
1 paper
NM_016362.5
p.G88G
c.264G>A
1 paper
NM_016362.5
p.G88V
c.263G>T
1 paper
NM_016362.5
p.Q92H
c.276G>T
1 paper
NM_016362.5
p.L86L
c.258G>T
1 paper
NM_016362.5
p.L86P
c.257T>C
1 paper
NM_016362.5
p.L86Q
c.257T>A
2 papers
NM_016362.5
p.A97V
c.290C>T
1 paper
NM_016362.5
p.V82I
c.244G>A
1 paper
NM_016362.5
p.A78T
c.232G>A
1 paper
NM_016362.5
p.N77S
c.230A>G
2 papers
NM_016362.5
p.F76del1
c.226_227delGAA
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