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.K152Q

c.454A>C

Surrounding Variants

2 papers

NM_000939.4

p.K152E

c.454A>G

1 paper

NM_000939.4

p.K152M

c.455A>T

1 paper

NM_000939.4

p.K152R

c.455A>G

3 papers

NM_000939.4

p.G151V

c.452G>T

1 paper

NM_000939.4

p.G151A

c.452G>C

1 paper

NM_000939.4

p.K152K

c.456G>A

2 papers

NM_000939.4

p.G151R

c.451G>C

2 papers

NM_000939.4

p.G151S

c.451G>A

1 paper

NM_000939.4

p.P149_V150delFs

c.446_450del5

1 paper

NM_000939.4

p.K153Q

c.457A>C

1 paper

NM_000939.4

p.K153R

c.458A>G

1 paper

NM_000939.4

p.V150G

c.449T>G