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

2 papers

NM_000939.4

p.G88R

c.262G>C

Surrounding Variants

1 paper

NM_000939.4

p.G88C

c.262G>T

1 paper

NM_000939.4

p.G88S

c.262G>A

1 paper

NM_000939.4

p.G88V

c.263G>T

1 paper

NM_000939.4

p.G88A

c.263G>C

6 papers

NM_000939.4

p.F87L

c.261C>G

6 papers

NM_000939.4

p.F87L

c.261C>A

1 paper

NM_000939.4

p.F87C

c.260T>G

1 paper

NM_000939.4

p.F87S

c.260T>C

1 paper

NM_000939.4

p.F87V

c.259T>G

6 papers

NM_000939.4

p.F87L

c.259T>C

2 papers

NM_000939.4

p.F87I

c.259T>A

1 paper

NM_000939.4

p.R89C

c.265C>T