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.M60T

c.179T>C

Surrounding Variants

2 papers

NM_000939.4

p.M60K

c.179T>A

1 paper

NM_000939.4

p.M60L

c.178A>T

2 papers

NM_000939.4

p.M60V

c.178A>G

4 papers

NM_000939.4

p.M60L

c.178A>C

1 paper

NM_000939.4

p.F61L

c.181T>C

1 paper

NM_000939.4

p.F61I

c.181T>A

1 paper

NM_000939.4

p.P59P

c.177C>A

1 paper

NM_000939.4

p.F61C

c.182T>G

1 paper

NM_000939.4

p.F61S

c.182T>C

2 papers

NM_000939.4

p.F61Y

c.182T>A

1 paper

NM_000939.4

p.T58_F61delFs

c.172_181del10

3 papers

NM_000939.4

p.P59L

c.176C>T