Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS10
Variant:p.H1101Q

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
5 papers
NM_030957.4
p.H1101Q
c.3303T>G
Surrounding Variants
5 papers
NM_030957.4
p.H1101Q
c.3303T>A
1 paper
NM_030957.4
p.Q1085delFs
c.3254_3255delCT
1 paper
NM_030957.4
p.G1065S
c.3193G>A
1 paper
NM_030957.4
p.C1041G
c.3121T>G
1 paper
NM_030957.4
p.T1034T
c.3102G>A
1 paper
NM_030957.4
p.R1026C
c.3076C>T
1 paper
NM_030957.4
p.C1015F
c.3044G>T
1 paper
NM_030957.4
p.E1011*
c.3031G>T
1 paper
NM_030957.4
p.V1008M
c.3022G>A
1 paper
NM_030957.4
p.A983V
c.2948C>T
1 paper
NM_030957.4
p.R977_T979del0
c.2930_2935del6
1 paper
NM_030957.4
p.P962T
c.2884C>A
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