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.F226L

c.678C>G

Surrounding Variants

1 paper

NM_000939.4

p.F226F

c.678C>T

2 papers

NM_000939.4

p.F226L

c.678C>A

1 paper

NM_000939.4

p.F226C

c.677T>G

2 papers

NM_000939.4

p.F226S

c.677T>C

1 paper

NM_000939.4

p.F226Y

c.677T>A

1 paper

NM_000939.4

p.R227C

c.679C>T

1 paper

NM_000939.4

p.R227G

c.679C>G

1 paper

NM_000939.4

p.R227S

c.679C>A

1 paper

NM_000939.4

p.F226V

c.676T>G

2 papers

NM_000939.4

p.F226L

c.676T>C

1 paper

NM_000939.4

p.F226I

c.676T>A

3 papers

NM_000939.4

p.R227L

c.680G>T