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.E187A

c.560A>C

Surrounding Variants

1 paper

NM_000939.4

p.E187G

c.560A>G

1 paper

NM_000939.4

p.E187D

c.561G>T

1 paper

NM_000939.4

p.E187*

c.559G>T

1 paper

NM_000939.4

p.E187D

c.561G>C

1 paper

NM_000939.4

p.E187Q

c.559G>C

2 papers

NM_000939.4

p.E187K

c.559G>A

1 paper

NM_000939.4

p.G188R

c.562G>C

2 papers

NM_000939.4

p.G188R

c.562G>A

1 paper

NM_000939.4

p.G188V

c.563G>T

1 paper

NM_000939.4

p.R186L

c.557G>T

1 paper

NM_000939.4

p.G188A

c.563G>C

1 paper

NM_000939.4

p.R186P

c.557G>C