Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.L290V

ADAMTSL3

178 papers

Pfam Domains

TSP_1aa 79–123UCSCThrombospondin type 1 domain
ADAMTS_CR_3aa 128–227UCSCADAMTS cysteine-rich domain
TSP1_ADAMTSaa 343–401UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 422–479UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 482–534UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 568–625UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

ADAMTS like 3

HGNC Alias Symbols

KIAA1233; punctin-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_207517.3
p.L290V
c.868C>G
Surrounding Variants
1 paper
NM_207517.3
p.V291I
c.871G>A
1 paper
NM_207517.3
p.G287S
c.859G>A
1 paper
NM_207517.3
p.S271*
c.812C>A
1 paper
NM_207517.3
p.S271*
c.812C>G
1 paper
NM_207517.3
p.P310L
c.929C>T
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