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.P121R

c.362C>G

Surrounding Variants

2 papers

NM_000939.4

p.P121L

c.362C>T

1 paper

NM_000939.4

p.P121H

c.362C>A

1 paper

NM_000939.4

p.P121S

c.361C>T

1 paper

NM_000939.4

p.P121A

c.361C>G

1 paper

NM_000939.4

p.P121T

c.361C>A

1 paper

NM_000939.4

p.E122Q

c.364G>C

1 paper

NM_000939.4

p.E122K

c.364G>A

1 paper

NM_000939.4

p.G120G

c.360C>G

1 paper

NM_000939.4

p.G120V

c.359G>T

1 paper

NM_000939.4

p.G120A

c.359G>C

1 paper

NM_000939.4

p.G120D

c.359G>A

1 paper

NM_000939.4

p.E122V

c.365A>T