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.K245Q

c.733A>C

Surrounding Variants

1 paper

NM_000939.4

p.K245insFs

c.733_734ins4

2 papers

NM_000939.4

p.E244D

c.732G>T

2 papers

NM_000939.4

p.E244D

c.732G>C

1 paper

NM_000939.4

p.K245R

c.734A>G

1 paper

NM_000939.4

p.E244V

c.731A>T

1 paper

NM_000939.4

p.E244G

c.731A>G

3 papers

NM_000939.4

p.E244*

c.730G>T

1 paper

NM_000939.4

p.E244Q

c.730G>C

1 paper

NM_000939.4

p.S246C

c.736A>T

1 paper

NM_000939.4

p.S246G

c.736A>G

1 paper

NM_000939.4

p.S246R

c.736A>C

1 paper

NM_000939.4

p.K245_S246insFs

c.733_736dup4