Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.T1660I

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
8 papers
NM_207517.3
p.T1660I
c.4979C>T
Surrounding Variants
1 paper
NM_207517.3
p.D1661V
c.4982A>T
1 paper
NM_207517.3
p.T1663A
c.4987A>G
2 papers
NM_207517.3
p.L1674F
c.5022G>C
2 papers
NM_207517.3
p.L1674F
c.5022G>T
1 paper
NM_207517.3
p.C1688R
c.5062T>C
2 papers
NM_207517.3
p.R1657Splc
c.4969+5G>A
1 paper
NM_207517.3
p.L1651R
c.4952T>G
1 paper
NM_207517.3
p.G1604A
c.4811G>C
2 papers
NM_207517.3
p.N1579K
c.4737C>A
2 papers
NM_207517.3
p.N1579K
c.4737C>G
3 papers
NM_207517.3
p.R1560C
c.4678C>T
1 paper
NM_207517.3
p.C1557F
c.4670G>T
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