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.E118A

c.353A>C

Surrounding Variants

2 papers

NM_000939.4

p.E118V

c.353A>T

1 paper

NM_000939.4

p.E118G

c.353A>G

1 paper

NM_000939.4

p.E118D

c.354G>T

1 paper

NM_000939.4

p.E118D

c.354G>C

1 paper

NM_000939.4

p.E118Q

c.352G>C

1 paper

NM_000939.4

p.E118K

c.352G>A

1 paper

NM_000939.4

p.P117P

c.351T>G

1 paper

NM_000939.4

p.P117P

c.351T>C

2 papers

NM_000939.4

p.P117P

c.351T>A

1 paper

NM_000939.4

p.G119C

c.355G>T

2 papers

NM_000939.4

p.G119R

c.355G>C

1 paper

NM_000939.4

p.G119S

c.355G>A