Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.W290delFs

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.W290delFs
c.870delG
Surrounding Variants
1 paper
NM_000112.4
p.W290*
c.869G>A
1 paper
NM_000112.4
p.W290*
c.870G>A
1 paper
NM_000112.4
p.T289S
c.865A>T
1 paper
NM_000112.4
p.H292R
c.875A>G
2 papers
NM_000112.4
p.L286P
c.857T>C
1 paper
NM_000112.4
p.H298R
c.893A>G
1 paper
NM_000112.4
p.G282_V283del2
c.844_848del6
1 paper
NM_000112.4
p.R279L
c.836G>T
93 papers
NM_000112.4
p.R279W
c.835C>T
1 paper
NM_000112.4
p.L302_C303delFs
c.906_907delCT
2 papers
NM_000112.4
p.C303*
c.909T>A
1 paper
NM_000112.4
p.L275H
c.824T>A
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