Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D673V

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
6 papers
NM_000112.4
p.D673V
c.2018A>T
Surrounding Variants
2 papers
NM_000112.4
p.Y674S
c.2021A>C
1 paper
NM_000112.4
p.V670delFs
c.2010delT
1 paper
NM_000112.4
p.E669K
c.2005G>A
1 paper
NM_000112.4
p.G678R
c.2032G>A
1 paper
NM_000112.4
p.G678R
c.2032G>C
1 paper
NM_000112.4
p.G678delins
c.2032_2033delinsCT
14 papers
NM_000112.4
p.G678V
c.2033G>T
1 paper
NM_000112.4
p.K668delFs
c.2003delA
7 papers
NM_000112.4
p.H665P
c.1994A>C
7 papers
NM_000112.4
p.G663R
c.1987G>A
7 papers
NM_000112.4
p.G663R
c.1987G>C
1 paper
NM_000112.4
p.A662T
c.1984G>A
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