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

4 papers

NM_005857.5

p.L362F

c.1086A>T

Surrounding Variants

3 papers

NM_005857.5

p.L362_F363insFs

c.1086_1087insT

4 papers

NM_005857.5

p.L362F

c.1086A>C

1 paper

NM_005857.5

p.F363fs

c.1087_1088fs

10 papers

NM_005857.5

p.L362fs

c.1084_1085fs

10 papers

NM_005857.5

p.L362fs

c.1084_1085fs

1 paper

NM_005857.5

p.A364T

c.1090G>A

1 paper

NM_005857.5

p.F360L

c.1080T>A

1 paper

NM_005857.5

p.F360L

c.1080T>G

1 paper

NM_005857.5

p.F360L

c.1078T>C

56 papers

NM_005857.5

p.L362insFs

c.1085_1086insT

1 paper

NM_005857.5

p.L362delFs

c.1085delT

1 paper

NM_005857.5

p.L366*

c.1097T>G