Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D250G

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.D250G
c.749A>G
Surrounding Variants
3 papers
NM_000112.4
p.D250V
c.749A>T
1 paper
NM_000112.4
p.S249A
c.745T>G
2 papers
NM_000112.4
p.L248F
c.742C>T
8 papers
NM_000112.4
p.G255E
c.764G>A
1 paper
NM_000112.4
p.G255_S267delFs
c.765_799del35
1 paper
NM_000112.4
p.S245A
c.733T>G
1 paper
NM_000112.4
p.S245delFs
c.734delC
3 papers
NM_000112.4
p.F256S
c.767T>C
1 paper
NM_000112.4
p.V244_V246delFs
c.731_737del7
5 papers
NM_000112.4
p.G259V
c.776G>T
1 paper
NM_000112.4
p.V241M
c.721G>A
1 paper
NM_000112.4
p.S261P
c.781T>C
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