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.I189L

c.565A>C

Surrounding Variants

1 paper

NM_007038.5

p.G183W

c.547G>T

1 paper

NM_007038.5

p.R195R

c.585C>T

1 paper

NM_007038.5

p.Y182C

c.545A>G

1 paper

NM_007038.5

p.V181M

c.541G>A

1 paper

NM_007038.5

p.K178K

c.534G>A

1 paper

NM_007038.5

p.A174V

c.521C>T

1 paper

NM_007038.5

p.P204L

c.611C>T

1 paper

NM_007038.5

p.W173L

c.518G>T

1 paper

NM_007038.5

p.R170R

c.510C>T

1 paper

NM_007038.5

p.S214P

c.640T>C

1 paper

NM_007038.5

p.A161A

c.483G>A

1 paper

NM_007038.5

p.L152L

c.456C>A