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

1–12 of 331 variants

56 papers

NM_005857.5

p.L362insFs

c.1085_1086insT

23 papers

NM_005857.5

p.P248L

c.743C>T

19 papers

NM_005857.5

p.N265S

c.794A>G

19 papers

NM_005857.5

p.W340R

c.1018T>C

17 papers

NM_005857.5

p.W340R

c.1018T>A

13 papers

NM_005857.5

p.Q41*

c.121C>T

13 papers

NM_005857.5

p.L94P

c.281T>C

12 papers

NM_005857.5

p.L438F

c.1312C>T

11 papers

NM_005857.5

p.Q417*

c.1249C>T

11 papers

NM_005857.5

p.W450*

c.1349G>A

10 papers

NM_005857.5

p.L362fs

c.1084_1085fs

10 papers

NM_005857.5

p.L362fs

c.1084_1085fs