Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.N415fs

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.N415fs
c.1243_1244fs
Surrounding Variants
1 paper
NM_000112.4
p.N415K
c.1245C>A
1 paper
NM_000112.4
p.N415K
c.1245C>G
1 paper
NM_000112.4
p.A414_N415delFs
c.1242_1245del4
1 paper
NM_000112.4
p.E417K
c.1249G>A
1 paper
NM_000112.4
p.E417A
c.1250A>C
1 paper
NM_000112.4
p.M418L
c.1252A>C
1 paper
NM_000112.4
p.Y419H
c.1255T>C
2 papers
NM_000112.4
p.G409D
c.1226G>A
1 paper
NM_000112.4
p.G409A
c.1226G>C
2 papers
NM_000112.4
p.G409V
c.1226G>T
2 papers
NM_000112.4
p.I421T
c.1262T>C
1 paper
NM_000112.4
p.C424delFs
c.1270delT
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