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.E179D

c.537G>C

Surrounding Variants

1 paper

NM_000939.4

p.E179D

c.537G>T

1 paper

NM_000939.4

p.L180V

c.538C>G

2 papers

NM_000939.4

p.L180M

c.538C>A

1 paper

NM_000939.4

p.E179G

c.536A>G

1 paper

NM_000939.4

p.L180R

c.539T>G

1 paper

NM_000939.4

p.L180Q

c.539T>A

2 papers

NM_000939.4

p.E179Q

c.535G>C

1 paper

NM_000939.4

p.E179K

c.535G>A

1 paper

NM_000939.4

p.R178S

c.534G>T

1 paper

NM_000939.4

p.R178S

c.534G>C

1 paper

NM_000939.4

p.R178M

c.533G>T

1 paper

NM_000939.4

p.R178T

c.533G>C