Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.C863S

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.C863S
c.2587T>A
Surrounding Variants
1 paper
NM_207517.3
p.M862I
c.2586G>A
1 paper
NM_207517.3
p.C863S
c.2588G>C
5 papers
NM_207517.3
p.L869F
c.2605C>T
1 paper
NM_207517.3
p.R855H
c.2564G>A
1 paper
NM_207517.3
p.R855G
c.2563C>G
3 papers
NM_207517.3
p.R855C
c.2563C>T
1 paper
NM_207517.3
p.R854W
c.2560C>T
1 paper
NM_207517.3
p.S874S
c.2622T>C
1 paper
NM_207517.3
p.V845G
c.2534T>G
1 paper
NM_207517.3
p.Q844E
c.2530C>G
1 paper
NM_207517.3
p.Q840*
c.2518C>T
1 paper
NM_207517.3
p.C835Y
c.2504G>A
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