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.T282I

c.845C>T

Surrounding Variants

1 paper

NM_005857.5

p.L283L

c.847C>T

1 paper

NM_005857.5

p.F280fs

c.838_839fs

1 paper

NM_005857.5

p.E285*

c.853G>T

1 paper

NM_005857.5

p.F280_D281delFs

c.838_841del4

1 paper

NM_005857.5

p.V278I

c.832G>A

1 paper

NM_005857.5

p.V278L

c.832G>C

1 paper

NM_005857.5

p.Y287_S288insA

c.859_863ins3

1 paper

NM_005857.5

p.Y287delFs

c.860delA

1 paper

NM_005857.5

p.I277T

c.830T>C

1 paper

NM_005857.5

p.S288C

c.863C>G

2 papers

NM_005857.5

p.S288_V289delFs

c.864_867del4

1 paper

NM_005857.5

p.R276P

c.827G>C