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.F271S

c.812T>C

Surrounding Variants

1 paper

NM_005857.5

p.K273E

c.817A>G

1 paper

NM_005857.5

p.K273M

c.818A>T

1 paper

NM_005857.5

p.F268L

c.802T>C

2 papers

NM_005857.5

p.Y267C

c.800A>G

1 paper

NM_005857.5

p.Y267_F268del1

c.801_803delTTT

1 paper

NM_005857.5

p.Y267H

c.799T>C

1 paper

NM_005857.5

p.R276*

c.826C>T

1 paper

NM_005857.5

p.R276P

c.827G>C

19 papers

NM_005857.5

p.N265S

c.794A>G

1 paper

NM_005857.5

p.I277T

c.830T>C

1 paper

NM_005857.5

p.N265_A266del1

c.794_796delATG

1 paper

NM_005857.5

p.V278I

c.832G>A