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.P220L

c.659C>T

Surrounding Variants

1 paper

NM_000939.4

p.P220R

c.659C>G

1 paper

NM_000939.4

p.P220H

c.659C>A

1 paper

NM_000939.4

p.P220S

c.658C>T

1 paper

NM_000939.4

p.P220A

c.658C>G

1 paper

NM_000939.4

p.P220fs

c.658_659fs

1 paper

NM_000939.4

p.P220T

c.658C>A

1 paper

NM_000939.4

p.Y221_R222insC

c.661_665ins3

1 paper

NM_000939.4

p.Y221D

c.661T>G

1 paper

NM_000939.4

p.Y221H

c.661T>C

1 paper

NM_000939.4

p.Y221N

c.661T>A

1 paper

NM_000939.4

p.G219V

c.656G>T

1 paper

NM_000939.4

p.G219A

c.656G>C