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.L438I

c.1312T>A

Surrounding Variants

1 paper

NM_007038.5

p.S441F

c.1322C>T

1 paper

NM_007038.5

p.I460V

c.1378A>G

1 paper

NM_007038.5

p.R477Q

c.1430G>A

1 paper

NM_007038.5

p.P483P

c.1449C>T

1 paper

NM_007038.5

p.D492N

c.1474G>A

1 paper

NM_007038.5

p.Q495K

c.1483C>A

1 paper

NM_007038.5

p.F501F

c.1503C>T

1 paper

NM_007038.5

p.Y505H

c.1513T>C

1 paper

NM_007038.5

p.A515V

c.1544C>T