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.V157A

c.470T>C

Surrounding Variants

1 paper

NM_000939.4

p.V157E

c.470T>A

2 papers

NM_000939.4

p.V157L

c.469G>T

2 papers

NM_000939.4

p.V157L

c.469G>C

2 papers

NM_000939.4

p.V157M

c.469G>A

1 paper

NM_000939.4

p.P156Q

c.467C>A

1 paper

NM_000939.4

p.K158M

c.473A>T

1 paper

NM_000939.4

p.K158T

c.473A>C

2 papers

NM_000939.4

p.V159A

c.476T>C

1 paper

NM_000939.4

p.R155L

c.464G>T

1 paper

NM_000939.4

p.R155C

c.463C>T

1 paper

NM_000939.4

p.Y160D

c.478T>G

3 papers

NM_000939.4

p.Y160H

c.478T>C