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

4 papers

NM_000939.4

p.D126E

c.378T>A

Surrounding Variants

3 papers

NM_000939.4

p.D126E

c.378T>G

2 papers

NM_000939.4

p.G127C

c.379G>T

1 paper

NM_000939.4

p.G127R

c.379G>C

1 paper

NM_000939.4

p.G127S

c.379G>A

2 papers

NM_000939.4

p.D126V

c.377A>T

1 paper

NM_000939.4

p.D126G

c.377A>G

7 papers

NM_000939.4

p.D126A

c.377A>C

7 papers

NM_000939.4

p.D126Y

c.376G>T

1 paper

NM_000939.4

p.G127V

c.380G>T

2 papers

NM_000939.4

p.G127A

c.380G>C

1 paper

NM_000939.4

p.D126H

c.376G>C

4 papers

NM_000939.4

p.D126N

c.376G>A