Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.G1110R

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.G1110R
c.3328G>C
Surrounding Variants
1 paper
NM_207517.3
p.G1110R
c.3328G>A
1 paper
NM_207517.3
p.A1117V
c.3350C>T
1 paper
NM_207517.3
p.Q1119R
c.3356A>G
3 papers
NM_207517.3
p.E1127K
c.3379G>A
1 paper
NM_207517.3
p.Q1132*
c.3394C>T
1 paper
NM_207517.3
p.A1082E
c.3245C>A
3 papers
NM_207517.3
p.R1139Q
c.3416G>A
1 paper
NM_207517.3
p.K1076T
c.3227A>C
1 paper
NM_207517.3
p.W1073C
c.3219G>C
1 paper
NM_207517.3
p.W1073C
c.3219G>T
1 paper
NM_207517.3
p.W1073L
c.3218G>T
1 paper
NM_207517.3
p.G1068*
c.3202G>T
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