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.R89C

c.265C>T

Surrounding Variants

1 paper

NM_000939.4

p.R89G

c.265C>G

2 papers

NM_000939.4

p.R89S

c.265C>A

1 paper

NM_000939.4

p.R89P

c.266G>C

1 paper

NM_000939.4

p.R89H

c.266G>A

1 paper

NM_000939.4

p.G88V

c.263G>T

1 paper

NM_000939.4

p.G88A

c.263G>C

2 papers

NM_000939.4

p.R89R

c.267C>T

1 paper

NM_000939.4

p.G88C

c.262G>T

2 papers

NM_000939.4

p.G88R

c.262G>C

1 paper

NM_000939.4

p.G88S

c.262G>A

1 paper

NM_000939.4

p.R90C

c.268C>T

1 paper

NM_000939.4

p.R90G

c.268C>G