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.P248A

c.742C>G

Surrounding Variants

1 paper

NM_005857.5

p.P248R

c.743C>G

23 papers

NM_005857.5

p.P248L

c.743C>T

1 paper

NM_005857.5

p.T250del1

c.748_749delACG

1 paper

NM_005857.5

p.D246N

c.736G>A

1 paper

NM_005857.5

p.T250M

c.749C>T

1 paper

NM_005857.5

p.V252M

c.754G>A

1 paper

NM_005857.5

p.A242V

c.725C>T

2 papers

NM_005857.5

p.A242T

c.724G>A

1 paper

NM_005857.5

p.M241_A242delFs

c.721_724del4

7 papers

NM_005857.5

p.E239*

c.715G>T

1 paper

NM_005857.5

p.E237K

c.709G>A

1 paper

NM_005857.5

p.E237*

c.709G>T