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

1–12 of 72 variants

143 papers

NM_016362.5

p.L72M

c.214C>A

75 papers

NM_016362.5

p.R51Q

c.152G>A

44 papers

NM_016362.5

p.Q90L

c.269A>T

13 papers

NM_016362.5

p.D116N

c.346G>A

3 papers

NM_016362.5

p.V7I

c.19G>A

3 papers

NM_016362.5

p.L57L

c.171C>T

2 papers

NM_016362.5

p.G14S

c.40G>A

2 papers

NM_016362.5

p.E40K

c.118G>A

2 papers

NM_016362.5

p.P50S

c.148C>T

2 papers

NM_016362.5

p.R51*

c.151C>T

2 papers

NM_016362.5

p.D70N

c.208G>A

2 papers

NM_016362.5

p.D70G

c.209A>G