Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.E893K

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
6 papers
NM_207517.3
p.E893K
c.2677G>A
Surrounding Variants
1 paper
NM_207517.3
p.G892V
c.2675G>T
1 paper
NM_207517.3
p.P896L
c.2687C>T
1 paper
NM_207517.3
p.S900G
c.2698A>G
1 paper
NM_207517.3
p.K882Splc
c.2645-1G>C
1 paper
NM_207517.3
p.R913C
c.2737C>T
2 papers
NM_207517.3
p.V930M
c.2788G>A
1 paper
NM_207517.3
p.V930V
c.2790G>A
4 papers
NM_207517.3
p.P935P
c.2805C>A
1 paper
NM_207517.3
p.F939I
c.2815T>A
1 paper
NM_207517.3
p.G950G
c.2850C>T
1 paper
NM_207517.3
p.H970H
c.2910T>C
1 paper
NM_207517.3
p.A973P
c.2917G>C
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