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

2 papers

NM_000939.4

p.P173L

c.518C>T

Surrounding Variants

1 paper

NM_000939.4

p.P173R

c.518C>G

1 paper

NM_000939.4

p.P173S

c.517C>T

1 paper

NM_000939.4

p.P173A

c.517C>G

1 paper

NM_000939.4

p.P173T

c.517C>A

1 paper

NM_000939.4

p.L174L

c.520C>T

2 papers

NM_000939.4

p.F172L

c.516C>G

1 paper

NM_000939.4

p.L174V

c.520C>G

2 papers

NM_000939.4

p.F172L

c.516C>A

1 paper

NM_000939.4

p.L174M

c.520C>A

3 papers

NM_000939.4

p.L174R

c.521T>G

1 paper

NM_000939.4

p.F172C

c.515T>G

3 papers

NM_000939.4

p.L174P

c.521T>C