Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2

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
1–12 of 387 variants
93 papers
NM_000112.4
p.R279W
c.835C>T
48 papers
NM_000112.4
p.C653S
c.1957T>A
46 papers
NM_000112.4
p.C653S
c.1958G>C
27 papers
NM_000112.4
p.R178*
c.532C>T
23 papers
NM_000112.4
p.L483P
c.1448T>C
18 papers
NM_000112.4
p.V340_V341del1
c.1020_1022delTGT
17 papers
NM_000112.4
p.A386V
c.1157C>T
17 papers
NM_000112.4
p.N425D
c.1273A>G
16 papers
NM_000112.4
p.T689S
c.2065A>T
16 papers
NM_000112.4
p.T689S
c.2066C>G
16 papers
NM_000112.4
p.A715V
c.2144C>T
14 papers
NM_000112.4
p.G678V
c.2033G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."