Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.A133V

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.A133V
c.398C>T
Surrounding Variants
5 papers
NM_000112.4
p.L132P
c.395T>C
3 papers
NM_000112.4
p.Q135K
c.403C>A
2 papers
NM_000112.4
p.L131fs
c.391_392fs
2 papers
NM_000112.4
p.E136_P137insTT
c.406_410ins6
1 paper
NM_000112.4
p.S130F
c.389C>T
1 paper
NM_000112.4
p.L131delFs
c.391delC
1 paper
NM_000112.4
p.Y129C
c.386A>G
1 paper
NM_000112.4
p.V138L
c.412G>C
3 papers
NM_000112.4
p.V138F
c.412G>T
1 paper
NM_000112.4
p.G140delFs
c.418delG
1 paper
NM_000112.4
p.S126P
c.376T>C
1 paper
NM_000112.4
p.Q125H
c.375G>C
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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."