Varaico: Literature-Extracted Genetic Variants

POMC

960 papers

RefSeq Summary

This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight pote...

Pfam Domains

NPPaa 27–70UCSCPro-opiomelanocortin, N-terminal region

ACTH_domainaa 74–91UCSCCorticotropin ACTH domain

ACTH_domainaa 136–155UCSCCorticotropin ACTH domain

ACTH_domainaa 218–236UCSCCorticotropin ACTH domain

Op_neuropeptideaa 237–264UCSCOpioids neuropeptide

Gene Aliases

HGNC Name

proopiomelanocortin

HGNC Alias Symbols

ACTH; NPP; LPH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000939.4

p.G219R

c.655G>C

Surrounding Variants

2 papers

NM_000939.4

p.G219C

c.655G>T

2 papers

NM_000939.4

p.G219S

c.655G>A

1 paper

NM_000939.4

p.G219V

c.656G>T

1 paper

NM_000939.4

p.E218D

c.654G>T

1 paper

NM_000939.4

p.G219A

c.656G>C

1 paper

NM_000939.4

p.E218D

c.654G>C

2 papers

NM_000939.4

p.G219D

c.656G>A

1 paper

NM_000939.4

p.E218V

c.653A>T

1 paper

NM_000939.4

p.E218G

c.653A>G

1 paper

NM_000939.4

p.E218A

c.653A>C

2 papers

NM_000939.4

p.E218delFs

c.652delC

1 paper

NM_000939.4

p.E218*

c.652G>T