Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.D626Y

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
1 paper
NM_207517.3
p.D626Y
c.1876G>T
Surrounding Variants
1 paper
NM_207517.3
p.R632Q
c.1895G>A
1 paper
NM_207517.3
p.P619H
c.1856C>A
1 paper
NM_207517.3
p.R618L
c.1853G>T
2 papers
NM_207517.3
p.R618W
c.1852C>T
1 paper
NM_207517.3
p.L638F
c.1912C>T
1 paper
NM_207517.3
p.P639T
c.1915C>A
1 paper
NM_207517.3
p.G611D
c.1832G>A
1 paper
NM_207517.3
p.E608D
c.1824G>C
1 paper
NM_207517.3
p.E608D
c.1824G>T
1 paper
NM_207517.3
p.E608K
c.1822G>A
1 paper
NM_207517.3
p.T644M
c.1931C>T
1 paper
NM_207517.3
p.W648R
c.1942T>A
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