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.A434T

c.1300G>A

Surrounding Variants

1 paper

NM_005857.5

p.S433S

c.1299T>G

12 papers

NM_005857.5

p.L438F

c.1312C>T

6 papers

NM_005857.5

p.L425P

c.1274T>C

1 paper

NM_005857.5

p.G444R

c.1330G>A

1 paper

NM_005857.5

p.P446P

c.1338T>A

1 paper

NM_005857.5

p.F421S

c.1262T>C

1 paper

NM_005857.5

p.P446P

c.1338T>C

1 paper

NM_005857.5

p.P446P

c.1338T>G

1 paper

NM_005857.5

p.A418fs

c.1252_1253fs

1 paper

NM_005857.5

p.Q417H

c.1251A>C

1 paper

NM_005857.5

p.Q417H

c.1251A>T

11 papers

NM_005857.5

p.W450*

c.1349G>A