Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.L659*

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.L659*
c.1976T>G
Surrounding Variants
2 papers
NM_000112.4
p.L659*
c.1976T>A
1 paper
NM_000112.4
p.F658I
c.1972T>A
1 paper
NM_000112.4
p.T661delFs
c.1982delC
1 paper
NM_000112.4
p.L659delFs
c.1976delT
1 paper
NM_000112.4
p.T661delFs
c.1983delA
1 paper
NM_000112.4
p.A662T
c.1984G>A
2 papers
NM_000112.4
p.A662fs
c.1984_1985fs
1 paper
NM_000112.4
p.Q657_T661del5
c.1969_1982del15
7 papers
NM_000112.4
p.G663R
c.1987G>A
7 papers
NM_000112.4
p.G663R
c.1987G>C
1 paper
NM_000112.4
p.I656_L659del4
c.1966_1976del12
1 paper
NM_000112.4
p.C653*
c.1959C>A
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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."