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.E206D

c.618G>T

Surrounding Variants

2 papers

NM_000939.4

p.E206D

c.618G>C

1 paper

NM_000939.4

p.H207Y

c.619C>T

3 papers

NM_000939.4

p.H207D

c.619C>G

1 paper

NM_000939.4

p.H207N

c.619C>A

1 paper

NM_000939.4

p.E206G

c.617A>G

1 paper

NM_000939.4

p.E206A

c.617A>C

10 papers

NM_000939.4

p.E206*

c.616G>T

1 paper

NM_000939.4

p.E206Q

c.616G>C

1 paper

NM_000939.4

p.E206K

c.616G>A

1 paper

NM_000939.4

p.Q202_E206delins

c.605_616delinsGGGCCCAGGCCGACGTGT

1 paper

NM_000939.4

p.H207L

c.620A>T

1 paper

NM_000939.4

p.H207R

c.620A>G