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.A100T

c.298G>A

Surrounding Variants

2 papers

NM_000939.4

p.A100S

c.298G>T

1 paper

NM_000939.4

p.A100ins3

c.298_299ins9

2 papers

NM_000939.4

p.S94_G99ins2

c.280_297dup18

1 paper

NM_000939.4

p.A100insFs

c.298_299insA

1 paper

NM_000939.4

p.A100P

c.298G>C

1 paper

NM_000939.4

p.A100V

c.299C>T

1 paper

NM_000939.4

p.A100G

c.299C>G

3 papers

NM_000939.4

p.G99_A100ins3

c.297_298ins9

3 papers

NM_000939.4

p.G99fs

c.295_296fs

1 paper

NM_000939.4

p.G99_A100insFs

c.297_298insA

1 paper

NM_000939.4

p.A100E

c.299C>A

10 papers

NM_000939.4

p.G99delFs

c.296delC