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

2 papers

NM_007038.5

p.G577S

c.1729G>A

Surrounding Variants

1 paper

NM_007038.5

p.S580Y

c.1739C>A

1 paper

NM_007038.5

p.R581C

c.1741C>T

1 paper

NM_007038.5

p.G571*

c.1711G>T

1 paper

NM_007038.5

p.Y591C

c.1772A>G

1 paper

NM_007038.5

p.R604C

c.1810C>T

6 papers

NM_007038.5

p.R614H

c.1841G>A

1 paper

NM_007038.5

p.G625Splc

c.1873+5G>A

1 paper

NM_007038.5

p.R629C

c.1885C>T

1 paper

NM_007038.5

p.G645V

c.1934G>T

1 paper

NM_007038.5

p.V678A

c.2033T>C

1 paper

NM_007038.5

p.A515V

c.1544C>T

1 paper

NM_007038.5

p.Y505H

c.1513T>C