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.R182H

c.545G>A

Surrounding Variants

1 paper

NM_030957.4

p.P171P

c.513G>A

1 paper

NM_030957.4

p.P171L

c.512C>T

1 paper

NM_030957.4

p.S170N

c.509G>A

1 paper

NM_030957.4

p.R197K

c.590G>A

1 paper

NM_030957.4

p.G164G

c.492G>A

3 papers

NM_030957.4

p.E153K

c.457G>A

1 paper

NM_030957.4

p.V150M

c.448G>A

3 papers

NM_030957.4

p.S134T

c.401G>C

1 paper

NM_030957.4

p.Q131fs

c.391_392fs

1 paper

NM_030957.4

p.Y124_A125insFs

c.372_373insGT

1 paper

NM_030957.4

p.Y124H

c.370T>C

1 paper

NM_030957.4

p.R119R

c.357G>A