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.V107A

c.320T>C

Surrounding Variants

1 paper

NM_000939.4

p.V107G

c.320T>G

1 paper

NM_000939.4

p.V107D

c.320T>A

1 paper

NM_000939.4

p.V107F

c.319G>T

1 paper

NM_000939.4

p.V107L

c.319G>C

1 paper

NM_000939.4

p.V107I

c.319G>A

1 paper

NM_000939.4

p.S108A

c.322T>G

1 paper

NM_000939.4

p.S108P

c.322T>C

1 paper

NM_000939.4

p.S108T

c.322T>A

2 papers

NM_000939.4

p.D106E

c.318C>G

1 paper

NM_000939.4

p.D106E

c.318C>A

1 paper

NM_000939.4

p.S108L

c.323C>T

1 paper

NM_000939.4

p.D106V

c.317A>T