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.Q202L

c.605A>T

Surrounding Variants

1 paper

NM_000939.4

p.Q202R

c.605A>G

1 paper

NM_000939.4

p.Q202P

c.605A>C

2 papers

NM_000939.4

p.G200_Q202ins1

c.599_604dup6

1 paper

NM_000939.4

p.Q202H

c.606G>T

1 paper

NM_000939.4

p.Q202H

c.606G>C

2 papers

NM_000939.4

p.Q202*

c.604C>T

4 papers

NM_000939.4

p.Q202E

c.604C>G

1 paper

NM_000939.4

p.Q202insFs

c.604_605insG

1 paper

NM_000939.4

p.Q202K

c.604C>A

1 paper

NM_000939.4

p.A203S

c.607G>T

1 paper

NM_000939.4

p.A203P

c.607G>C

1 paper

NM_000939.4

p.A203T

c.607G>A