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.Y31C

c.92A>G

Surrounding Variants

1 paper

NM_005857.5

p.Y31_L32del1

c.92_94delATC

1 paper

NM_005857.5

p.V30M

c.88G>A

1 paper

NM_005857.5

p.V30L

c.88G>C

1 paper

NM_005857.5

p.V30L

c.88G>T

1 paper

NM_005857.5

p.W33*

c.98G>A

1 paper

NM_005857.5

p.T29S

c.85A>T

1 paper

NM_005857.5

p.W33C

c.99G>C

2 papers

NM_005857.5

p.W33C

c.99G>T

1 paper

NM_005857.5

p.W28C

c.84G>C

1 paper

NM_005857.5

p.W28C

c.84G>T

1 paper

NM_005857.5

p.W28*

c.83G>A

3 papers

NM_005857.5

p.W28_T29insA

c.82_86ins3