Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.V118E

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
2 papers
NM_000112.4
p.V118E
c.353T>A
Surrounding Variants
1 paper
NM_000112.4
p.V118G
c.353T>G
2 papers
NM_000112.4
p.I117S
c.350T>G
1 paper
NM_000112.4
p.G115A
c.344G>C
1 paper
NM_000112.4
p.V123M
c.367G>A
1 paper
NM_000112.4
p.M113delFs
c.338delT
1 paper
NM_000112.4
p.P124T
c.370C>A
4 papers
NM_000112.4
p.M113delFs
c.337_338delAT
1 paper
NM_000112.4
p.Q125L
c.374A>T
1 paper
NM_000112.4
p.Q125H
c.375G>C
4 papers
NM_000112.4
p.D111Y
c.331G>T
1 paper
NM_000112.4
p.S126P
c.376T>C
1 paper
NM_000112.4
p.G110E
c.329G>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."