Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D511Y

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.D511Y
c.1531G>T
Surrounding Variants
1 paper
NM_000112.4
p.D511H
c.1531G>C
1 paper
NM_000112.4
p.D511G
c.1532A>G
12 papers
NM_000112.4
p.T512K
c.1535C>A
5 papers
NM_000112.4
p.F516_V517insFs
c.1548_1549insC
1 paper
NM_000112.4
p.W505R
c.1513T>A
1 paper
NM_000112.4
p.W505R
c.1513T>C
5 papers
NM_000112.4
p.M504I
c.1512G>A
5 papers
NM_000112.4
p.M504I
c.1512G>C
5 papers
NM_000112.4
p.M504I
c.1512G>T
1 paper
NM_000112.4
p.L520delFs
c.1559delT
1 paper
NM_000112.4
p.L520R
c.1559T>G
1 paper
NM_000112.4
p.L501F
c.1501C>T
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