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.L469F

c.1407G>T

Surrounding Variants

1 paper

NM_005857.5

p.L469F

c.1407G>C

1 paper

NM_005857.5

p.L469S

c.1406T>C

1 paper

NM_005857.5

p.R465K

c.1394G>A

1 paper

NM_005857.5

p.R465G

c.1393A>G

1 paper

NM_005857.5

p.E464E

c.1392G>A

6 papers

NM_005857.5

p.L462R

c.1385T>G

1 paper

NM_005857.5

p.L462V

c.1384C>G

1 paper

NM_005857.5

p.H459R

c.1376A>G

1 paper

NM_005857.5

p.H456L

c.1367A>T

1 paper

NM_005857.5

p.W455C

c.1365G>C

1 paper

NM_005857.5

p.W455C

c.1365G>T

1 paper

NM_005857.5

p.W455S

c.1364G>C