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

14 papers

NM_000939.4

p.E214G

c.641A>G

Surrounding Variants

1 paper

NM_000939.4

p.E214V

c.641A>T

1 paper

NM_000939.4

p.E214A

c.641A>C

1 paper

NM_000939.4

p.A213del1

c.637_638delGGC

1 paper

NM_000939.4

p.E214D

c.642G>T

1 paper

NM_000939.4

p.E214D

c.642G>C

1 paper

NM_000939.4

p.E214Q

c.640G>C

2 papers

NM_000939.4

p.E214K

c.640G>A

1 paper

NM_000939.4

p.K215*

c.643A>T

1 paper

NM_000939.4

p.K215E

c.643A>G

2 papers

NM_000939.4

p.K215Q

c.643A>C

2 papers

NM_000939.4

p.A213V

c.638C>T

1 paper

NM_000939.4

p.A213G

c.638C>G