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

8 papers

NM_000939.4

p.R145C

c.433C>T

Surrounding Variants

2 papers

NM_000939.4

p.R145G

c.433C>G

1 paper

NM_000939.4

p.R145S

c.433C>A

3 papers

NM_000939.4

p.R145fs

c.433_434fs

4 papers

NM_000939.4

p.R145L

c.434G>T

1 paper

NM_000939.4

p.R145P

c.434G>C

2 papers

NM_000939.4

p.R145H

c.434G>A

7 papers

NM_000939.4

p.R145delFs

c.433delG

11 papers

NM_000939.4

p.F144L

c.432C>G

11 papers

NM_000939.4

p.F144L

c.432C>A

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.F144Y

c.431T>A