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.K76M

c.227A>T

Surrounding Variants

3 papers

NM_000939.4

p.K76R

c.227A>G

2 papers

NM_000939.4

p.K76N

c.228G>T

2 papers

NM_000939.4

p.K76N

c.228G>C

1 paper

NM_000939.4

p.K76fs

c.226_227fs

3 papers

NM_000939.4

p.K76*

c.226A>T

1 paper

NM_000939.4

p.K76Q

c.226A>C

2 papers

NM_000939.4

p.R75delFs

c.225delC

1 paper

NM_000939.4

p.Y77D

c.229T>G

1 paper

NM_000939.4

p.Y77N

c.229T>A

2 papers

NM_000939.4

p.R75fs

c.223_224fs

1 paper

NM_000939.4

p.R75R

c.225G>A

7 papers

NM_000939.4

p.R75insFs

c.223dupC