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.R25P

c.74G>C

Surrounding Variants

2 papers

NM_000939.4

p.R25L

c.74G>T

1 paper

NM_000939.4

p.R25H

c.74G>A

1 paper

NM_000939.4

p.R25insFs

c.74_75insG

3 papers

NM_000939.4

p.R25C

c.73C>T

1 paper

NM_000939.4

p.R25G

c.73C>G

1 paper

NM_000939.4

p.R25S

c.73C>A

1 paper

NM_000939.4

p.G26insFs

c.76_77insTA

1 paper

NM_000939.4

p.G26R

c.76G>C

1 paper

NM_000939.4

p.G26S

c.76G>A

1 paper

NM_000939.4

p.V24G

c.71T>G

1 paper

NM_000939.4

p.V24A

c.71T>C

1 paper

NM_000939.4

p.V24E

c.71T>A