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.R124R

c.372C>T

Surrounding Variants

1 paper

NM_000939.4

p.R124L

c.371G>T

1 paper

NM_000939.4

p.R124P

c.371G>C

2 papers

NM_000939.4

p.R124H

c.371G>A

2 papers

NM_000939.4

p.S125C

c.373A>T

1 paper

NM_000939.4

p.S125G

c.373A>G

1 paper

NM_000939.4

p.S125I

c.374G>T

1 paper

NM_000939.4

p.S125T

c.374G>C

2 papers

NM_000939.4

p.S125N

c.374G>A

1 paper

NM_000939.4

p.R124C

c.370C>T

1 paper

NM_000939.4

p.R124G

c.370C>G

1 paper

NM_000939.4

p.R124S

c.370C>A

1 paper

NM_000939.4

p.S125S

c.375C>T