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

2 papers

NM_000939.4

p.R48P

c.143G>C

Surrounding Variants

2 papers

NM_000939.4

p.R48Q

c.143G>A

2 papers

NM_000939.4

p.R48W

c.142C>T

1 paper

NM_000939.4

p.R48G

c.142C>G

1 paper

NM_000939.4

p.A49S

c.145G>T

1 paper

NM_000939.4

p.A49P

c.145G>C

1 paper

NM_000939.4

p.I47I

c.141C>T

1 paper

NM_000939.4

p.I47insFs

c.140_141ins4

1 paper

NM_000939.4

p.I47S

c.140T>G

1 paper

NM_000939.4

p.I47T

c.140T>C

2 papers

NM_000939.4

p.A49V

c.146C>T

1 paper

NM_000939.4

p.A49G

c.146C>G

1 paper

NM_000939.4

p.A49D

c.146C>A