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.T38S

c.113C>G

Surrounding Variants

1 paper

NM_000939.4

p.T38I

c.113C>T

1 paper

NM_000939.4

p.T38N

c.113C>A

1 paper

NM_000939.4

p.T38S

c.112A>T

3 papers

NM_000939.4

p.T38A

c.112A>G

1 paper

NM_000939.4

p.T38P

c.112A>C

1 paper

NM_000939.4

p.L37L

c.111C>T

1 paper

NM_000939.4

p.L37L

c.111C>G

1 paper

NM_000939.4

p.T39S

c.115A>T

1 paper

NM_000939.4

p.T39P

c.115A>C

1 paper

NM_000939.4

p.L37R

c.110T>G

2 papers

NM_000939.4

p.L37P

c.110T>C

1 paper

NM_000939.4

p.L37H

c.110T>A