Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.M236fs

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
2 papers
NM_000112.4
p.M236fs
c.706_707fs
Surrounding Variants
1 paper
NM_000112.4
p.M236T
c.707T>C
1 paper
NM_000112.4
p.A235V
c.704C>T
1 paper
NM_000112.4
p.G237S
c.709G>A
1 paper
NM_000112.4
p.A235_G237delFs
c.705_711del7
2 papers
NM_000112.4
p.G237V
c.710G>T
1 paper
NM_000112.4
p.V234I
c.700G>A
1 paper
NM_000112.4
p.Q233_V234Splc
c.700-1G>A
5 papers
NM_000112.4
p.Q233_V234Splc
c.700-1G>C
1 paper
NM_000112.4
p.V241M
c.721G>A
1 paper
NM_000112.4
p.V244_V246delFs
c.731_737del7
1 paper
NM_000112.4
p.S245A
c.733T>G
1 paper
NM_000112.4
p.S245delFs
c.734delC
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