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.N256D

c.766A>G

Surrounding Variants

1 paper

NM_000939.4

p.N256I

c.767A>T

1 paper

NM_000939.4

p.K255N

c.765A>T

2 papers

NM_000939.4

p.N256S

c.767A>G

1 paper

NM_000939.4

p.N256T

c.767A>C

1 paper

NM_000939.4

p.K255N

c.765A>C

1 paper

NM_000939.4

p.K255R

c.764A>G

1 paper

NM_000939.4

p.A257S

c.769G>T

2 papers

NM_000939.4

p.A257T

c.769G>A

1 paper

NM_000939.4

p.A257V

c.770C>T

1 paper

NM_000939.4

p.F254L

c.762C>G

1 paper

NM_000939.4

p.A257D

c.770C>A

1 paper

NM_000939.4

p.F254L

c.762C>A