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.G198S

c.592G>A

Surrounding Variants

1 paper

NM_000939.4

p.G198R

c.592G>C

1 paper

NM_000939.4

p.G198V

c.593G>T

1 paper

NM_000939.4

p.G198A

c.593G>C

1 paper

NM_000939.4

p.G198D

c.593G>A

1 paper

NM_000939.4

p.D197E

c.591C>G

1 paper

NM_000939.4

p.D197E

c.591C>A

1 paper

NM_000939.4

p.G198G

c.594C>T

1 paper

NM_000939.4

p.D197V

c.590A>T

1 paper

NM_000939.4

p.D197G

c.590A>G

1 paper

NM_000939.4

p.D197A

c.590A>C

1 paper

NM_000939.4

p.A199S

c.595G>T

1 paper

NM_000939.4

p.D197Y

c.589G>T