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

3 papers

NM_000939.4

p.E142K

c.424G>A

Surrounding Variants

1 paper

NM_000939.4

p.E142Q

c.424G>C

1 paper

NM_000939.4

p.M141I

c.423G>T

1 paper

NM_000939.4

p.M141I

c.423G>C

1 paper

NM_000939.4

p.M141I

c.423G>A

2 papers

NM_000939.4

p.E142V

c.425A>T

1 paper

NM_000939.4

p.E142G

c.425A>G

1 paper

NM_000939.4

p.E142A

c.425A>C

2 papers

NM_000939.4

p.M141R

c.422T>G

1 paper

NM_000939.4

p.M141T

c.422T>C

1 paper

NM_000939.4

p.M141K

c.422T>A

1 paper

NM_000939.4

p.E142D

c.426G>T

1 paper

NM_000939.4

p.E142D

c.426G>C