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

3 papers

NM_007038.5

p.L692P

c.2075T>C

Surrounding Variants

1 paper

NM_007038.5

p.L692L

c.2074C>T

1 paper

NM_007038.5

p.T685I

c.2054C>T

1 paper

NM_007038.5

p.R700Q

c.2099G>A

1 paper

NM_007038.5

p.G710V

c.2129G>T

1 paper

NM_007038.5

p.C721C

c.2163C>T

1 paper

NM_007038.5

p.G726R

c.2176G>C

1 paper

NM_007038.5

p.G726R

c.2176G>A

1 paper

NM_007038.5

p.G726fs

c.2176_2177fs

1 paper

NM_007038.5

p.V678A

c.2033T>C

1 paper

NM_007038.5

p.G645V

c.1934G>T

1 paper

NM_007038.5

p.R629C

c.1885C>T

1 paper

NM_007038.5

p.G625Splc

c.1873+5G>A