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.R233Q

c.698G>A

Surrounding Variants

1 paper

NM_030957.4

p.L231R

c.692T>G

1 paper

NM_030957.4

p.G230R

c.688G>C

9 papers

NM_030957.4

p.R237*

c.709C>T

3 papers

NM_030957.4

p.R239H

c.716G>A

1 paper

NM_030957.4

p.E225delFs

c.674_675delCT

1 paper

NM_030957.4

p.V241M

c.721G>A

1 paper

NM_030957.4

p.T224insFs

c.671_672insAT

1 paper

NM_030957.4

p.Y240_E242delFs

c.718_724del7

1 paper

NM_030957.4

p.T243S

c.727A>T

1 paper

NM_030957.4

p.T243S

c.728C>G

1 paper

NM_030957.4

p.T243T

c.729C>T

1 paper

NM_030957.4

p.D248H

c.742G>C