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.E111A

c.332A>C

Surrounding Variants

1 paper

NM_000939.4

p.E111V

c.332A>T

1 paper

NM_000939.4

p.E111G

c.332A>G

1 paper

NM_000939.4

p.E111Q

c.331G>C

3 papers

NM_000939.4

p.E111K

c.331G>A

2 papers

NM_000939.4

p.E111D

c.333A>T

2 papers

NM_000939.4

p.E111D

c.333A>C

2 papers

NM_000939.4

p.D112Y

c.334G>T

1 paper

NM_000939.4

p.E111_D112insFs

c.333_334insA

2 papers

NM_000939.4

p.D112H

c.334G>C

1 paper

NM_000939.4

p.D112N

c.334G>A

1 paper

NM_000939.4

p.G110V

c.329G>T

1 paper

NM_000939.4

p.G110A

c.329G>C