Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.N732S

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.N732S
c.2195A>G
Surrounding Variants
1 paper
NM_000112.4
p.P731_S737del7
c.2191_2210del21
1 paper
NM_000112.4
p.V730I
c.2188G>A
1 paper
NM_000112.4
p.V728delFs
c.2182delG
2 papers
NM_000112.4
p.N724S
c.2171A>G
2 papers
NM_000112.4
p.N724I
c.2171A>T
1 paper
NM_000112.4
p.E720*
c.2158G>T
1 paper
NM_000112.4
p.A719delFs
c.2156delC
2 papers
NM_000112.4
p.A719fs
c.2155_2156fs
1 paper
NM_000112.4
p.F718S
c.2153T>C
1 paper
NM_000112.4
p.M716_A717insFs
c.2148_2149insCT
2 papers
NM_000112.4
p.M716insFs
c.2147_2148insCT
16 papers
NM_000112.4
p.A715V
c.2144C>T
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