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.A22V

c.65C>T

Surrounding Variants

1 paper

NM_005857.5

p.V23_L25delFs

c.68_75del8

1 paper

NM_005857.5

p.L24L

c.72G>C

1 paper

NM_005857.5

p.L25V

c.73C>G

1 paper

NM_005857.5

p.L25F

c.73C>T

2 papers

NM_005857.5

p.I19fs

c.55_56fs

9 papers

NM_005857.5

p.R18insFs

c.54dupT

1 paper

NM_005857.5

p.K17T

c.50A>C

3 papers

NM_005857.5

p.S27F

c.80C>T

2 papers

NM_005857.5

p.K17fs

c.49_50fs

5 papers

NM_005857.5

p.K17delFs

c.50delA

3 papers

NM_005857.5

p.W28_T29insA

c.82_86ins3

1 paper

NM_005857.5

p.W28*

c.83G>A