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.G200V

c.599G>T

Surrounding Variants

2 papers

NM_000939.4

p.G200A

c.599G>C

1 paper

NM_000939.4

p.G200E

c.599G>A

1 paper

NM_000939.4

p.G200W

c.598G>T

1 paper

NM_000939.4

p.G200_A201insV

c.598_602ins3

1 paper

NM_000939.4

p.G200R

c.598G>C

1 paper

NM_000939.4

p.G200R

c.598G>A

1 paper

NM_000939.4

p.A201S

c.601G>T

1 paper

NM_000939.4

p.A201P

c.601G>C

1 paper

NM_000939.4

p.A201T

c.601G>A

2 papers

NM_000939.4

p.A201V

c.602C>T

1 paper

NM_000939.4

p.A199V

c.596C>T

1 paper

NM_000939.4

p.A201G

c.602C>G