Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D63E

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.D63E
c.189T>A
Surrounding Variants
1 paper
NM_000112.4
p.D63G
c.188A>G
1 paper
NM_000112.4
p.N65D
c.193A>G
1 paper
NM_000112.4
p.K61I
c.182A>T
1 paper
NM_000112.4
p.F66L
c.196T>C
1 paper
NM_000112.4
p.F66L
c.198C>A
1 paper
NM_000112.4
p.F66L
c.198C>G
1 paper
NM_000112.4
p.E60insFs
c.178_179insC
1 paper
NM_000112.4
p.R58R
c.174T>A
2 papers
NM_000112.4
p.R58H
c.173G>A
1 paper
NM_000112.4
p.R58delFs
c.172delC
1 paper
NM_000112.4
p.I71L
c.211A>C
1 paper
NM_000112.4
p.K72*
c.214A>T
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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."