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

2 papers

NM_000939.4

p.S98N

c.293G>A

Surrounding Variants

1 paper

NM_000939.4

p.S98I

c.293G>T

1 paper

NM_000939.4

p.S98T

c.293G>C

1 paper

NM_000939.4

p.S98R

c.294C>G

1 paper

NM_000939.4

p.S98R

c.294C>A

1 paper

NM_000939.4

p.S98C

c.292A>T

1 paper

NM_000939.4

p.S98G

c.292A>G

1 paper

NM_000939.4

p.S98R

c.292A>C

1 paper

NM_000939.4

p.G99C

c.295G>T

1 paper

NM_000939.4

p.G99R

c.295G>C

2 papers

NM_000939.4

p.G99S

c.295G>A

1 paper

NM_000939.4

p.S97fs

c.289_290fs

4 papers

NM_000939.4

p.G99fs

c.295_296fs