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.M13I

c.39G>C

Surrounding Variants

1 paper

NM_005857.5

p.M13I

c.39G>A

1 paper

NM_005857.5

p.M13I

c.39G>T

1 paper

NM_005857.5

p.P14S

c.40C>T

1 paper

NM_005857.5

p.M13R

c.38T>G

1 paper

NM_005857.5

p.A15V

c.44C>T

1 paper

NM_005857.5

p.E16delFs

c.46_47delGA

1 paper

NM_005857.5

p.E16Q

c.46G>C

5 papers

NM_005857.5

p.K17delFs

c.50delA

2 papers

NM_005857.5

p.K17fs

c.49_50fs

1 paper

NM_005857.5

p.K17T

c.50A>C

4 papers

NM_005857.5

p.L10insFs

c.28_29insA

3 papers

NM_005857.5

p.L10fs

c.28_29fs