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.G114A

c.341G>C

Surrounding Variants

1 paper

NM_000939.4

p.G114V

c.341G>T

1 paper

NM_000939.4

p.G114D

c.341G>A

2 papers

NM_000939.4

p.G114C

c.340G>T

1 paper

NM_000939.4

p.G114R

c.340G>C

2 papers

NM_000939.4

p.G114S

c.340G>A

1 paper

NM_000939.4

p.P115S

c.343C>T

1 paper

NM_000939.4

p.P115A

c.343C>G

1 paper

NM_000939.4

p.C113W

c.339C>G

1 paper

NM_000939.4

p.P115T

c.343C>A

1 paper

NM_000939.4

p.C113F

c.338G>T

1 paper

NM_000939.4

p.C113S

c.338G>C

2 papers

NM_000939.4

p.C113Y

c.338G>A