Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.L483P

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
23 papers
NM_000112.4
p.L483P
c.1448T>C
Surrounding Variants
4 papers
NM_000112.4
p.G484D
c.1451G>A
1 paper
NM_000112.4
p.V485_I486del2
c.1453_1457del6
1 paper
NM_000112.4
p.S481N
c.1442G>A
2 papers
NM_000112.4
p.S481fs
c.1441_1442fs
4 papers
NM_000112.4
p.S481insFs
c.1441dupA
11 papers
NM_000112.4
p.R492W
c.1474C>T
1 paper
NM_000112.4
p.G493delFs
c.1478delG
1 paper
NM_000112.4
p.G493R
c.1477G>C
1 paper
NM_000112.4
p.G493fs
c.1477_1478fs
1 paper
NM_000112.4
p.G493fs
c.1477_1478fs
1 paper
NM_000112.4
p.L474delFs
c.1421delT
1 paper
NM_000112.4
p.G493E
c.1478G>A
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