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.G387G

c.1161A>G

Surrounding Variants

1 paper

NM_005857.5

p.L388L

c.1162C>T

1 paper

NM_005857.5

p.I391insFs

c.1173dupC

1 paper

NM_005857.5

p.Y379*

c.1137T>A

1 paper

NM_005857.5

p.Y379*

c.1137T>G

1 paper

NM_005857.5

p.F396insFs

c.1186_1187insGG

1 paper

NM_005857.5

p.G377D

c.1130G>A

1 paper

NM_005857.5

p.G377V

c.1130G>T

8 papers

NM_005857.5

p.Y399C

c.1196A>G

1 paper

NM_005857.5

p.N400D

c.1198A>G

2 papers

NM_005857.5

p.A375G

c.1124C>G

1 paper

NM_005857.5

p.N400S

c.1199A>G

1 paper

NM_005857.5

p.E401_V402Splc

c.1203+1G>A