Varaico: Literature-Extracted Genetic Variants

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_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.D116V

c.347A>T

Surrounding Variants

13 papers

NM_016362.5

p.D116N

c.346G>A

1 paper

NM_016362.5

p.K117N

c.351G>T

1 paper

NM_016362.5

p.K117N

c.351G>C

2 papers

NM_016362.5

p.E109G

c.326A>G

1 paper

NM_016362.5

p.Q103_E108delFs

c.309_322del14

1 paper

NM_016362.5

p.I105_L106insFs

c.315_316insC

2 papers

NM_016362.5

p.L106P

c.317T>C

1 paper

NM_016362.5

p.L102_Q103del2

c.304_308del6

2 papers

NM_016362.5

p.A97V

c.290C>T

1 paper

NM_016362.5

p.Q92H

c.276G>T

44 papers

NM_016362.5

p.Q90L

c.269A>T

1 paper

NM_016362.5

p.Q90R

c.269A>G