Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS10
Variant:p.F815L

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.F815L
c.2443T>C
Surrounding Variants
1 paper
NM_030957.4
p.F815L
c.2445C>G
1 paper
NM_030957.4
p.F815L
c.2445C>A
1 paper
NM_030957.4
p.A820T
c.2458G>A
1 paper
NM_030957.4
p.L808R
c.2423T>G
1 paper
NM_030957.4
p.P825S
c.2473C>T
1 paper
NM_030957.4
p.L803L
c.2409G>A
2 papers
NM_030957.4
p.W829R
c.2485T>C
2 papers
NM_030957.4
p.W829R
c.2485T>A
1 paper
NM_030957.4
p.C837S
c.2509T>A
1 paper
NM_030957.4
p.C837S
c.2510G>C
1 paper
NM_030957.4
p.G792_M801delFs
c.2376_2401del26
1 paper
NM_030957.4
p.L798V
c.2392C>G
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