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.V315M

c.943G>A

Surrounding Variants

1 paper

NM_007038.5

p.V315fs

c.943_944fs

1 paper

NM_007038.5

p.A314delFs

c.942delG

1 paper

NM_007038.5

p.V316M

c.946G>A

2 papers

NM_007038.5

p.R312L

c.935G>T

1 paper

NM_007038.5

p.V318L

c.952G>T

1 paper

NM_007038.5

p.V318L

c.952G>C

1 paper

NM_007038.5

p.D323N

c.967G>A

1 paper

NM_007038.5

p.A335T

c.1003G>A

1 paper

NM_007038.5

p.G284G

c.852C>T

1 paper

NM_007038.5

p.G284S

c.850G>A

1 paper

NM_007038.5

p.A280P

c.838G>C

1 paper

NM_007038.5

p.A277T

c.829G>A