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.K148M

c.443A>T

Surrounding Variants

1 paper

NM_000939.4

p.K148R

c.443A>G

1 paper

NM_000939.4

p.K148T

c.443A>C

2 papers

NM_000939.4

p.K148N

c.444G>T

2 papers

NM_000939.4

p.K148N

c.444G>C

2 papers

NM_000939.4

p.K148E

c.442A>G

1 paper

NM_000939.4

p.K148Q

c.442A>C

1 paper

NM_000939.4

p.P149S

c.445C>T

1 paper

NM_000939.4

p.P149A

c.445C>G

4 papers

NM_000939.4

p.P149T

c.445C>A

1 paper

NM_000939.4

p.G147V

c.440G>T

1 paper

NM_000939.4

p.G147A

c.440G>C

2 papers

NM_000939.4

p.G147D

c.440G>A