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

2 papers

NM_005857.5

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_005857.5

p.M1R

c.2T>G

1 paper

NM_005857.5

p.M1_G2delFs

c.2_5del4

1 paper

NM_005857.5

p.M1I

c.3G>A

1 paper

NM_005857.5

p.M1I

c.3G>C

1 paper

NM_005857.5

p.M1_G2insFs

c.3_4insA

1 paper

NM_005857.5

p.M1I

c.3G>T

1 paper

NM_005857.5

p.M1_M3delFs

c.1_7del7

1 paper

NM_005857.5

p.G2R

c.4G>A

1 paper

NM_005857.5

p.G2R

c.4G>C

1 paper

NM_005857.5

p.G2insFs

c.4_5insT

1 paper

NM_005857.5

p.G2W

c.4G>T

1 paper

NM_005857.5

p.G2E

c.5G>A