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.Y139insFs

c.416dupA

Surrounding Variants

2 papers

NM_000939.4

p.Y139*

c.417C>G

2 papers

NM_000939.4

p.Y139*

c.417C>A

1 paper

NM_000939.4

p.S140_M141ins4

c.418_422ins12

1 paper

NM_000939.4

p.S140A

c.418T>G

1 paper

NM_000939.4

p.S140P

c.418T>C

1 paper

NM_000939.4

p.S140T

c.418T>A

1 paper

NM_000939.4

p.Y139F

c.416A>T

1 paper

NM_000939.4

p.Y139C

c.416A>G

1 paper

NM_000939.4

p.Y139S

c.416A>C

1 paper

NM_000939.4

p.Y139D

c.415T>G

2 papers

NM_000939.4

p.Y139H

c.415T>C

1 paper

NM_000939.4

p.Y139N

c.415T>A