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.Q41_R42Splc

c.123+11A>G

Surrounding Variants

1 paper

NM_005857.5

p.Q41R

c.122A>G

1 paper

NM_005857.5

p.Q41K

c.121C>A

13 papers

NM_005857.5

p.Q41*

c.121C>T

1 paper

NM_005857.5

p.R40W

c.118C>T

1 paper

NM_005857.5

p.Q39Q

c.117G>A

2 papers

NM_005857.5

p.Q39R

c.116A>G

1 paper

NM_005857.5

p.A38S

c.112G>T

1 paper

NM_005857.5

p.F36V

c.106T>G

1 paper

NM_005857.5

p.W33C

c.99G>C

2 papers

NM_005857.5

p.W33C

c.99G>T

1 paper

NM_005857.5

p.W33*

c.98G>A

1 paper

NM_005857.5

p.Y31C

c.92A>G