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

19 papers

NM_005857.5

p.W340R

c.1018T>C

Surrounding Variants

17 papers

NM_005857.5

p.W340R

c.1018T>A

3 papers

NM_005857.5

p.W340*

c.1019G>A

3 papers

NM_005857.5

p.W340*

c.1020G>A

3 papers

NM_005857.5

p.G343E

c.1028G>A

2 papers

NM_005857.5

p.E336A

c.1007A>C

1 paper

NM_005857.5

p.H335Y

c.1003C>T

1 paper

NM_005857.5

p.T345T

c.1035A>G

3 papers

NM_005857.5

p.G334D

c.1001G>A

1 paper

NM_005857.5

p.K347R

c.1040A>G

1 paper

NM_005857.5

p.A331T

c.991G>A

1 paper

NM_005857.5

p.L330L

c.990C>T

1 paper

NM_005857.5

p.I351_S352del1

c.1052_1054delTTA