Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D177Y

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.D177Y
c.529G>T
Surrounding Variants
1 paper
NM_000112.4
p.D177D
c.531C>T
1 paper
NM_000112.4
p.R178insFs
c.533_534insG
27 papers
NM_000112.4
p.R178*
c.532C>T
1 paper
NM_000112.4
p.E174D
c.522G>C
1 paper
NM_000112.4
p.M171_I172insFs
c.513_514insTC
1 paper
NM_000112.4
p.M171_D177del0
c.513_530del18
1 paper
NM_000112.4
p.N187insFs
c.560_561insA
1 paper
NM_000112.4
p.D186D
c.558C>T
1 paper
NM_000112.4
p.G166A
c.497G>C
4 papers
NM_000112.4
p.G166R
c.496G>A
4 papers
NM_000112.4
p.G166R
c.496G>C
1 paper
NM_000112.4
p.H189insFs
c.566dupA
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