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

2 papers

NM_016362.5

p.D70G

c.209A>G

Surrounding Variants

2 papers

NM_016362.5

p.D70N

c.208G>A

1 paper

NM_016362.5

p.E69E

c.207G>A

1 paper

NM_016362.5

p.E69K

c.205G>A

1 paper

NM_016362.5

p.L72V

c.214C>G

144 papers

NM_016362.5

p.L72M

c.214C>A

NM_001134944.2

p.L60M

c.178C>A

1 paper

NM_016362.5

p.E73K

c.217G>A

1 paper

NM_016362.5

p.E66K

c.196G>A

2 papers

NM_016362.5

p.R75G

c.223C>G

1 paper

NM_016362.5

p.R75Q

c.224G>A

1 paper

NM_016362.5

p.R75_F76Splc

c.225+5G>C

1 paper

NM_016362.5

p.G62V

c.185G>T

1 paper

NM_016362.5

p.E60G

c.179A>G