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

3 papers

NM_000939.4

p.D85E

c.255C>G

Surrounding Variants

2 papers

NM_000939.4

p.D85E

c.255C>A

8 papers

NM_000939.4

p.R86*

c.256C>T

2 papers

NM_000939.4

p.R86G

c.256C>G

1 paper

NM_000939.4

p.R86_F87insA

c.256_260ins3

1 paper

NM_000939.4

p.R86P

c.257G>C

2 papers

NM_000939.4

p.R86Q

c.257G>A

1 paper

NM_000939.4

p.D85N

c.253G>A

14 papers

NM_000939.4

p.W84*

c.252G>A

1 paper

NM_000939.4

p.F87V

c.259T>G

6 papers

NM_000939.4

p.F87L

c.259T>C

2 papers

NM_000939.4

p.F87I

c.259T>A

3 papers

NM_000939.4

p.W84L

c.251G>T