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.S105_G106del1

c.315_317delTGG

Surrounding Variants

1 paper

NM_005857.5

p.G106fs

c.316_317fs

1 paper

NM_005857.5

p.G106G

c.318A>T

1 paper

NM_005857.5

p.W102*

c.305G>A

2 papers

NM_005857.5

p.C109Y

c.326G>A

2 papers

NM_005857.5

p.G110D

c.329G>A

2 papers

NM_005857.5

p.P99L

c.296C>T

1 paper

NM_005857.5

p.P99fs

c.295_296fs

7 papers

NM_005857.5

p.P99delFs

c.295delC

1 paper

NM_005857.5

p.F114I

c.340T>A

1 paper

NM_005857.5

p.G96insFs

c.287_288insA

13 papers

NM_005857.5

p.L94P

c.281T>C

1 paper

NM_005857.5

p.L93L

c.279T>A