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

3 papers

NM_000939.4

p.P62L

c.185C>T

Surrounding Variants

1 paper

NM_000939.4

p.P62Q

c.185C>A

1 paper

NM_000939.4

p.P62S

c.184C>T

1 paper

NM_000939.4

p.P62A

c.184C>G

2 papers

NM_000939.4

p.P62T

c.184C>A

1 paper

NM_000939.4

p.G63R

c.187G>C

2 papers

NM_000939.4

p.G63R

c.187G>A

1 paper

NM_000939.4

p.F61F

c.183C>T

1 paper

NM_000939.4

p.F61L

c.183C>G

1 paper

NM_000939.4

p.F61L

c.183C>A

1 paper

NM_000939.4

p.F61C

c.182T>G

1 paper

NM_000939.4

p.F61S

c.182T>C

2 papers

NM_000939.4

p.F61Y

c.182T>A