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.M223L

c.667A>T

Surrounding Variants

3 papers

NM_000939.4

p.M223V

c.667A>G

1 paper

NM_000939.4

p.M223L

c.667A>C

1 paper

NM_000939.4

p.R222delFs

c.665delC

1 paper

NM_000939.4

p.M223R

c.668T>G

2 papers

NM_000939.4

p.M223T

c.668T>C

1 paper

NM_000939.4

p.M223K

c.668T>A

2 papers

NM_000939.4

p.R222S

c.666G>T

2 papers

NM_000939.4

p.R222S

c.666G>C

1 paper

NM_000939.4

p.R222R

c.666G>A

1 paper

NM_000939.4

p.M223I

c.669G>T

1 paper

NM_000939.4

p.R222M

c.665G>T

1 paper

NM_000939.4

p.M223I

c.669G>C