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

4 papers

NM_000939.4

p.R236C

c.706C>T

Surrounding Variants

58 papers

NM_000939.4

p.R236G

c.706C>G

1 paper

NM_000939.4

p.R236L

c.707G>T

1 paper

NM_000939.4

p.K235N

c.705G>T

1 paper

NM_000939.4

p.K235N

c.705G>C

4 papers

NM_000939.4

p.R236H

c.707G>A

2 papers

NM_000939.4

p.Y237N

c.709T>A

1 paper

NM_000939.4

p.D234E

c.702C>G

1 paper

NM_000939.4

p.D234E

c.702C>A

2 papers

NM_000939.4

p.Y237C

c.710A>G

1 paper

NM_000939.4

p.Y237S

c.710A>C

1 paper

NM_000939.4

p.D234V

c.701A>T

3 papers

NM_000939.4

p.D234G

c.701A>G