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

3 papers

NM_000939.4

p.S94R

c.280A>C

Surrounding Variants

1 paper

NM_000939.4

p.S94C

c.280A>T

1 paper

NM_000939.4

p.S94I

c.281G>T

1 paper

NM_000939.4

p.S94T

c.281G>C

5 papers

NM_000939.4

p.S94N

c.281G>A

1 paper

NM_000939.4

p.S93R

c.279C>G

1 paper

NM_000939.4

p.S93_S94insFs

c.279_280insGT

2 papers

NM_000939.4

p.S93R

c.279C>A

1 paper

NM_000939.4

p.S93I

c.278G>T

1 paper

NM_000939.4

p.S93T

c.278G>C

2 papers

NM_000939.4

p.S93N

c.278G>A

5 papers

NM_000939.4

p.S94S

c.282C>T

3 papers

NM_000939.4

p.S94R

c.282C>G