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.F144Y

c.431T>A

Surrounding Variants

1 paper

NM_000939.4

p.F144C

c.431T>G

2 papers

NM_000939.4

p.F144S

c.431T>C

1 paper

NM_000939.4

p.F144V

c.430T>G

11 papers

NM_000939.4

p.F144L

c.430T>C

1 paper

NM_000939.4

p.F144I

c.430T>A

11 papers

NM_000939.4

p.F144L

c.432C>G

11 papers

NM_000939.4

p.F144L

c.432C>A

8 papers

NM_000939.4

p.R145C

c.433C>T

9 papers

NM_000939.4

p.H143Q

c.429C>G

2 papers

NM_000939.4

p.R145G

c.433C>G

9 papers

NM_000939.4

p.H143Q

c.429C>A

1 paper

NM_000939.4

p.R145S

c.433C>A