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.P132R

c.395C>G

Surrounding Variants

1 paper

NM_000939.4

p.P132L

c.395C>T

1 paper

NM_000939.4

p.P132Q

c.395C>A

1 paper

NM_000939.4

p.P132P

c.396G>C

1 paper

NM_000939.4

p.P132S

c.394C>T

12 papers

NM_000939.4

p.P132A

c.394C>G

1 paper

NM_000939.4

p.P132T

c.394C>A

7 papers

NM_000939.4

p.R133C

c.397C>T

1 paper

NM_000939.4

p.P130delFs

c.390delC

1 paper

NM_000939.4

p.G131V

c.392G>T

1 paper

NM_000939.4

p.G131A

c.392G>C

1 paper

NM_000939.4

p.R133H

c.398G>A

1 paper

NM_000939.4

p.G131D

c.392G>A