Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.L707insFs

SLC26A2

354 papers

RefSeq Summary

The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of...

Pfam Domains

Sulfate_transpaa 108–518UCSCSulfate permease family
STASaa 569–715UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 2

HGNC Alias Symbol

DTDST

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000112.4
p.L707insFs
c.2119_2120dupCT
Surrounding Variants
1 paper
NM_000112.4
p.L707fs
c.2119_2120fs
1 paper
NM_000112.4
p.L708fs
c.2122_2123fs
1 paper
NM_000112.4
p.N706delFs
c.2116delA
1 paper
NM_000112.4
p.E704K
c.2110G>A
1 paper
NM_000112.4
p.A715T
c.2143G>A
16 papers
NM_000112.4
p.A715V
c.2144C>T
2 papers
NM_000112.4
p.M716insFs
c.2147_2148insCT
1 paper
NM_000112.4
p.N696K
c.2088C>A
1 paper
NM_000112.4
p.N696K
c.2088C>G
1 paper
NM_000112.4
p.M716_A717insFs
c.2148_2149insCT
1 paper
NM_000112.4
p.F718S
c.2153T>C
1 paper
NM_000112.4
p.A719delFs
c.2156delC
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."