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.C28*

c.84C>A

Surrounding Variants

1 paper

NM_000939.4

p.C28W

c.84C>G

16 papers

NM_000939.4

p.C28F

c.83G>T

2 papers

NM_000939.4

p.C28S

c.83G>C

2 papers

NM_000939.4

p.C28Y

c.83G>A

2 papers

NM_000939.4

p.L29L

c.85C>T

1 paper

NM_000939.4

p.L29V

c.85C>G

1 paper

NM_000939.4

p.L29M

c.85C>A

2 papers

NM_000939.4

p.L29insFs

c.86_87insA

1 paper

NM_000939.4

p.L29R

c.86T>G

1 paper

NM_000939.4

p.C28R

c.82T>C

2 papers

NM_000939.4

p.L29Q

c.86T>A

2 papers

NM_000939.4

p.C28S

c.82T>A