Varaico: Literature-Extracted Genetic Variants

ZMPSTE24

332 papers

RefSeq Summary

This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues o...

Pfam Domains

Peptidase_M48_Naa 41–225UCSCCAAX prenyl protease N-terminal, five membrane helices

Peptidase_M48aa 228–473UCSCPeptidase family M48

Gene Aliases

HGNC Name

zinc metallopeptidase STE24

HGNC Alias Symbols

FACE-1; Ste24p; STE24; HGPS; PRO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005857.5

p.V210fs

c.628_629fs

Surrounding Variants

1 paper

NM_005857.5

p.V210G

c.629T>G

1 paper

NM_005857.5

p.L209_V210Splc

c.628-2A>G

5 papers

NM_005857.5

p.D217D

c.651T>C

1 paper

NM_005857.5

p.I219L

c.655A>C

1 paper

NM_005857.5

p.L222_F223del2

c.664_668del6

1 paper

NM_005857.5

p.K225E

c.673A>G

2 papers

NM_005857.5

p.L209_V210Splc

c.628-50T>G

6 papers

NM_005857.5

p.E231*

c.691G>T

1 paper

NM_005857.5

p.E231G

c.692A>G

3 papers

NM_005857.5

p.G232R

c.694G>A

1 paper

NM_005857.5

p.G232R

c.694G>C

6 papers

NM_005857.5

p.G232E

c.695G>A