Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.G777R

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.G777R
c.2329G>A
Surrounding Variants
1 paper
NM_207517.3
p.G777R
c.2329G>C
1 paper
NM_207517.3
p.R787Q
c.2360G>A
1 paper
NM_207517.3
p.T791M
c.2372C>T
1 paper
NM_207517.3
p.S799*
c.2396C>A
1 paper
NM_207517.3
p.S799*
c.2396C>G
1 paper
NM_207517.3
p.C814Y
c.2441G>A
2 papers
NM_207517.3
p.P821S
c.2461C>T
1 paper
NM_207517.3
p.H822insFs
c.2464_2465insAA
2 papers
NM_207517.3
p.Q756*
c.2266C>T
1 paper
NM_207517.3
p.C719F
c.2156G>T
5 papers
NM_207517.3
p.G713R
c.2137G>A
5 papers
NM_207517.3
p.G713R
c.2137G>C
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