Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.R185P

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.R185P
c.554G>C
Surrounding Variants
1 paper
NM_207517.3
p.T184I
c.551C>T
1 paper
NM_207517.3
p.D182G
c.545A>G
1 paper
NM_207517.3
p.P152S
c.454C>T
3 papers
NM_207517.3
p.H146R
c.437A>G
1 paper
NM_207517.3
p.H146Y
c.436C>T
1 paper
NM_207517.3
p.Y143C
c.428A>G
2 papers
NM_207517.3
p.A137T
c.409G>A
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."