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.P249S

c.745C>T

Surrounding Variants

1 paper

NM_000939.4

p.P249T

c.745C>A

1 paper

NM_000939.4

p.P249L

c.746C>T

1 paper

NM_000939.4

p.P249R

c.746C>G

1 paper

NM_000939.4

p.P249H

c.746C>A

3 papers

NM_000939.4

p.T248M

c.743C>T

1 paper

NM_000939.4

p.T248R

c.743C>G

1 paper

NM_000939.4

p.T248K

c.743C>A

1 paper

NM_000939.4

p.L250fs

c.748_749fs

1 paper

NM_000939.4

p.L250L

c.748C>T

1 paper

NM_000939.4

p.L250V

c.748C>G

1 paper

NM_000939.4

p.T248S

c.742A>T

4 papers

NM_000939.4

p.T248A

c.742A>G