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.D192H

c.574G>C

Surrounding Variants

2 papers

NM_000939.4

p.D192Y

c.574G>T

1 paper

NM_000939.4

p.D192N

c.574G>A

1 paper

NM_000939.4

p.P191fs

c.571_572fs

1 paper

NM_000939.4

p.D192V

c.575A>T

1 paper

NM_000939.4

p.D192G

c.575A>G

1 paper

NM_000939.4

p.D192A

c.575A>C

2 papers

NM_000939.4

p.D192D

c.576C>T

1 paper

NM_000939.4

p.P191L

c.572C>T

1 paper

NM_000939.4

p.D192E

c.576C>G

1 paper

NM_000939.4

p.P191R

c.572C>G

1 paper

NM_000939.4

p.D192E

c.576C>A

1 paper

NM_000939.4

p.P191H

c.572C>A