Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.G1338R

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.G1338R
c.4012G>C
Surrounding Variants
1 paper
NM_207517.3
p.G1338R
c.4012G>A
1 paper
NM_207517.3
p.K1335N
c.4005G>C
1 paper
NM_207517.3
p.K1335N
c.4005G>T
1 paper
NM_207517.3
p.G1342D
c.4025G>A
1 paper
NM_207517.3
p.I1331V
c.3991A>G
1 paper
NM_207517.3
p.L1353F
c.4059G>C
1 paper
NM_207517.3
p.L1353F
c.4059G>T
1 paper
NM_207517.3
p.Y1365Y
c.4095C>T
1 paper
NM_207517.3
p.G1374V
c.4121G>T
1 paper
NM_207517.3
p.L1384F
c.4152G>C
1 paper
NM_207517.3
p.L1384F
c.4152G>T
1 paper
NM_207517.3
p.E1386Splc
c.4157-1G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."