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.D112H

c.334G>C

Surrounding Variants

2 papers

NM_000939.4

p.D112Y

c.334G>T

1 paper

NM_000939.4

p.E111_D112insFs

c.333_334insA

1 paper

NM_000939.4

p.D112N

c.334G>A

2 papers

NM_000939.4

p.E111D

c.333A>T

1 paper

NM_000939.4

p.D112V

c.335A>T

1 paper

NM_000939.4

p.D112G

c.335A>G

2 papers

NM_000939.4

p.E111D

c.333A>C

1 paper

NM_000939.4

p.D112A

c.335A>C

1 paper

NM_000939.4

p.D112E

c.336C>G

1 paper

NM_000939.4

p.D112E

c.336C>A

1 paper

NM_000939.4

p.E111V

c.332A>T

1 paper

NM_000939.4

p.E111G

c.332A>G