Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.T266I

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
5 papers
NM_000112.4
p.T266I
c.797C>T
Surrounding Variants
1 paper
NM_000112.4
p.T266fs
c.796_797fs
1 paper
NM_000112.4
p.T266insFs
c.796dupA
2 papers
NM_000112.4
p.S267F
c.800C>T
2 papers
NM_000112.4
p.L265P
c.794T>C
1 paper
NM_000112.4
p.K270delFs
c.808_809delAA
3 papers
NM_000112.4
p.S261C
c.782C>G
1 paper
NM_000112.4
p.S261P
c.781T>C
5 papers
NM_000112.4
p.G259V
c.776G>T
1 paper
NM_000112.4
p.L275H
c.824T>A
4 papers
NM_000112.4
p.L275P
c.824T>C
3 papers
NM_000112.4
p.F256S
c.767T>C
8 papers
NM_000112.4
p.G255E
c.764G>A
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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."