Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D633N

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.D633N
c.1897G>A
Surrounding Variants
1 paper
NM_000112.4
p.M635delFs
c.1905delG
1 paper
NM_000112.4
p.G630V
c.1889G>T
1 paper
NM_000112.4
p.T627fs
c.1879_1880fs
2 papers
NM_000112.4
p.H641R
c.1922A>G
1 paper
NM_000112.4
p.R619G
c.1855A>G
1 paper
NM_000112.4
p.V650V
c.1950G>C
1 paper
NM_000112.4
p.V650V
c.1950G>T
2 papers
NM_000112.4
p.D652N
c.1954G>A
48 papers
NM_000112.4
p.C653S
c.1957T>A
1 paper
NM_000112.4
p.C653G
c.1957T>G
1 paper
NM_000112.4
p.C653Y
c.1958G>A
46 papers
NM_000112.4
p.C653S
c.1958G>C
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