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

1 paper

NM_000939.4

p.F240L

c.718T>C

Surrounding Variants

1 paper

NM_000939.4

p.F240I

c.718T>A

1 paper

NM_000939.4

p.F240C

c.719T>G

1 paper

NM_000939.4

p.F240S

c.719T>C

1 paper

NM_000939.4

p.F240Y

c.719T>A

1 paper

NM_000939.4

p.G239V

c.716G>T

1 paper

NM_000939.4

p.G238delFs

c.713_714delGC

1 paper

NM_000939.4

p.F240L

c.720C>G

1 paper

NM_000939.4

p.F240insFs

c.719dupT

1 paper

NM_000939.4

p.F240L

c.720C>A

2 papers

NM_000939.4

p.G239R

c.715G>C

2 papers

NM_000939.4

p.G239S

c.715G>A

1 paper

NM_000939.4

p.M241fs

c.721_722fs