Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.C311_L312delFs

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.C311_L312delFs
c.933_934delCC
Surrounding Variants
1 paper
NM_000112.4
p.L312_V314del0
c.934_942del9
2 papers
NM_000112.4
p.C311R
c.931T>C
1 paper
NM_000112.4
p.L305F
c.913C>T
2 papers
NM_000112.4
p.C303*
c.909T>A
1 paper
NM_000112.4
p.L321delFs
c.961delC
1 paper
NM_000112.4
p.L321F
c.961C>T
1 paper
NM_000112.4
p.L302_C303delFs
c.906_907delCT
1 paper
NM_000112.4
p.H298R
c.893A>G
1 paper
NM_000112.4
p.K326R
c.977A>G
1 paper
NM_000112.4
p.H292R
c.875A>G
1 paper
NM_000112.4
p.W290*
c.870G>A
1 paper
NM_000112.4
p.W290*
c.869G>A
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