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.S208T

c.623G>C

Surrounding Variants

1 paper

NM_000939.4

p.S208I

c.623G>T

1 paper

NM_000939.4

p.S208S

c.624C>T

1 paper

NM_000939.4

p.S208R

c.624C>G

1 paper

NM_000939.4

p.S208R

c.624C>A

1 paper

NM_000939.4

p.S208C

c.622A>T

2 papers

NM_000939.4

p.S208G

c.622A>G

1 paper

NM_000939.4

p.S208R

c.622A>C

1 paper

NM_000939.4

p.L209L

c.625C>T

1 paper

NM_000939.4

p.L209V

c.625C>G

1 paper

NM_000939.4

p.H207Q

c.621C>G

1 paper

NM_000939.4

p.L209M

c.625C>A

1 paper

NM_000939.4

p.H207Q

c.621C>A