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.W228L

c.683G>T

Surrounding Variants

1 paper

NM_000939.4

p.W228S

c.683G>C

1 paper

NM_000939.4

p.W228G

c.682T>G

1 paper

NM_000939.4

p.W228R

c.682T>C

1 paper

NM_000939.4

p.W228R

c.682T>A

1 paper

NM_000939.4

p.W228C

c.684G>T

1 paper

NM_000939.4

p.W228C

c.684G>C

2 papers

NM_000939.4

p.G229C

c.685G>T

2 papers

NM_000939.4

p.G229R

c.685G>C

1 paper

NM_000939.4

p.G229S

c.685G>A

1 paper

NM_000939.4

p.R227R

c.681C>T

1 paper

NM_000939.4

p.R227fs

c.679_680fs

3 papers

NM_000939.4

p.R227L

c.680G>T