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.G135A

c.404G>C

Surrounding Variants

1 paper

NM_000939.4

p.G135V

c.404G>T

1 paper

NM_000939.4

p.G135D

c.404G>A

1 paper

NM_000939.4

p.G135C

c.403G>T

1 paper

NM_000939.4

p.G135R

c.403G>C

1 paper

NM_000939.4

p.G135S

c.403G>A

5 papers

NM_000939.4

p.G135insFs

c.403_404dupGG

1 paper

NM_000939.4

p.E134D

c.402G>T

2 papers

NM_000939.4

p.E134fs

c.400_401fs

1 paper

NM_000939.4

p.E134D

c.402G>C

2 papers

NM_000939.4

p.K136fs

c.406_407fs

1 paper

NM_000939.4

p.K136E

c.406A>G

2 papers

NM_000939.4

p.E134G

c.401A>G