Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.A85delFs

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.A85delFs
c.255delC
Surrounding Variants
1 paper
NM_000112.4
p.A85insFs
c.254_255ins14
1 paper
NM_000112.4
p.N87fs
c.259_260fs
1 paper
NM_000112.4
p.C80S
c.239G>C
1 paper
NM_000112.4
p.C80S
c.238T>A
1 paper
NM_000112.4
p.Q79P
c.236A>C
1 paper
NM_000112.4
p.Q79delFs
c.235delC
1 paper
NM_000112.4
p.C78G
c.232T>G
6 papers
NM_000112.4
p.N77H
c.229A>C
1 paper
NM_000112.4
p.P94delFs
c.282delT
1 paper
NM_000112.4
p.K72*
c.214A>T
3 papers
NM_000112.4
p.W98R
c.292T>A
4 papers
NM_000112.4
p.W98R
c.292T>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."