Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.I471K

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.I471K
c.1412T>A
Surrounding Variants
1 paper
NM_000112.4
p.L474delFs
c.1421delT
1 paper
NM_000112.4
p.V467D
c.1400T>A
2 papers
NM_000112.4
p.L465fs
c.1393_1394fs
1 paper
NM_000112.4
p.L465delFs
c.1394delT
4 papers
NM_000112.4
p.S481insFs
c.1441dupA
2 papers
NM_000112.4
p.S481fs
c.1441_1442fs
2 papers
NM_000112.4
p.A461V
c.1382C>T
1 paper
NM_000112.4
p.S481N
c.1442G>A
23 papers
NM_000112.4
p.L483P
c.1448T>C
1 paper
NM_000112.4
p.V459ins0
c.1375_1377dupGTA
4 papers
NM_000112.4
p.G484D
c.1451G>A
1 paper
NM_000112.4
p.V485_I486del2
c.1453_1457del6
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