Varaico: Literature-Extracted Genetic Variants

ADAMTS5

129 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a prop...

Pfam Domains

Reprolysinaa 267–476UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 487–554UCSCADAMTS cysteine-rich domain 2

TSP_1aa 571–621UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 625–731UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 733–852UCSCADAM-TS Spacer 1

TSP1_ADAMTSaa 879–930UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 5

HGNC Alias Symbols

ADMP-2; ADAMTS11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007038.5

p.V91V

c.273C>A

Surrounding Variants

2 papers

NM_007038.5

p.A93T

c.277G>A

1 paper

NM_007038.5

p.L90V

c.268C>G

1 paper

NM_007038.5

p.A93A

c.279G>A

1 paper

NM_007038.5

p.G85D

c.254G>A

1 paper

NM_007038.5

p.L100V

c.298T>G

1 paper

NM_007038.5

p.A111P

c.331G>C

1 paper

NM_007038.5

p.G112fs

c.334_335fs

1 paper

NM_007038.5

p.R67W

c.199C>T

1 paper

NM_007038.5

p.G117A

c.350G>C

1 paper

NM_007038.5

p.S121R

c.361A>C

1 paper

NM_007038.5

p.S121R

c.363T>G

1 paper

NM_007038.5

p.S121R

c.363T>A