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

2 papers

NM_000939.4

p.H81R

c.242A>G

Surrounding Variants

2 papers

NM_000939.4

p.H81Y

c.241C>T

2 papers

NM_000939.4

p.H81N

c.241C>A

3 papers

NM_000939.4

p.F82V

c.244T>G

1 paper

NM_000939.4

p.F82L

c.244T>C

1 paper

NM_000939.4

p.G80G

c.240C>A

5 papers

NM_000939.4

p.F82S

c.245T>C

1 paper

NM_000939.4

p.F82Y

c.245T>A

2 papers

NM_000939.4

p.G80A

c.239G>C

2 papers

NM_000939.4

p.G80D

c.239G>A

1 paper

NM_000939.4

p.G80C

c.238G>T

2 papers

NM_000939.4

p.G80R

c.238G>C

1 paper

NM_000939.4

p.G80S

c.238G>A