Varaico: Literature-Extracted Genetic Variants

ADAMTS10

170 papers

RefSeq Summary

This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes contain...

Pfam Domains

Pep_M12B_propepaa 40–129UCSCReprolysin family propeptide

Reprolysinaa 239–457UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 469–537UCSCADAMTS cysteine-rich domain 2

TSP_1aa 551–601UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 604–705UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 707–818UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 10

HGNC Alias Symbol

ADAM-TS10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030957.4

p.R75C

c.223C>T

Surrounding Variants

1 paper

NM_030957.4

p.E73K

c.217G>A

1 paper

NM_030957.4

p.Y78H

c.232T>C

9 papers

NM_030957.4

p.R62Q

c.185G>A

1 paper

NM_030957.4

p.L91L

c.273G>T

1 paper

NM_030957.4

p.R46H

c.137G>A

1 paper

NM_030957.4

p.L97_W107delFs

c.291_319del29

1 paper

NM_030957.4

p.E40D

c.120G>T

1 paper

NM_030957.4

p.E40D

c.120G>C

1 paper

NM_030957.4

p.R109Q

c.326G>A

2 papers

NM_030957.4

p.A117V

c.350C>T

1 paper

NM_030957.4

p.E31G

c.92A>G

1 paper

NM_030957.4

p.D30E

c.90T>G