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

1–12 of 126 variants

6 papers

NM_007038.5

p.R614H

c.1841G>A

3 papers

NM_007038.5

p.L692P

c.2075T>C

2 papers

NM_007038.5

p.A93T

c.277G>A

2 papers

NM_007038.5

p.R312L

c.935G>T

2 papers

NM_007038.5

p.L438I

c.1312T>A

2 papers

NM_007038.5

p.G577S

c.1729G>A

1 paper

NM_007038.5

p.M1K

c.2T>A

1 paper

NM_007038.5

p.L3I

c.7C>A

1 paper

NM_007038.5

p.L15Q

c.44T>A

1 paper

NM_007038.5

p.A19V

c.56C>T

1 paper

NM_007038.5

p.Q33*

c.97C>T

1 paper

NM_007038.5

p.A38P

c.112G>C