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.A109V

c.326C>T

Surrounding Variants

1 paper

NM_000939.4

p.A109G

c.326C>G

1 paper

NM_000939.4

p.A109E

c.326C>A

1 paper

NM_000939.4

p.A109S

c.325G>T

1 paper

NM_000939.4

p.A109P

c.325G>C

1 paper

NM_000939.4

p.A109T

c.325G>A

1 paper

NM_000939.4

p.G110C

c.328G>T

1 paper

NM_000939.4

p.G110R

c.328G>C

1 paper

NM_000939.4

p.G110S

c.328G>A

1 paper

NM_000939.4

p.G110fs

c.328_329fs

1 paper

NM_000939.4

p.G110V

c.329G>T

1 paper

NM_000939.4

p.G110A

c.329G>C

1 paper

NM_000939.4

p.G110D

c.329G>A