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.P2Q

c.5C>A

Surrounding Variants

1 paper

NM_000939.4

p.P2L

c.5C>T

1 paper

NM_000939.4

p.P2R

c.5C>G

3 papers

NM_000939.4

p.P2S

c.4C>T

1 paper

NM_000939.4

p.P2A

c.4C>G

3 papers

NM_000939.4

p.M1I

c.3G>T

3 papers

NM_000939.4

p.M1I

c.3G>C

4 papers

NM_000939.4

p.M1I

c.3G>A

1 paper

NM_000939.4

p.M1delFs

c.2delA

2 papers

NM_000939.4

p.R3G

c.7A>G

1 paper

NM_000939.4

p.M1R

c.2T>G

4 papers

NM_000939.4

p.M1T

c.2T>C

1 paper

NM_000939.4

p.M1K

c.2T>A