Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.Y151delFs

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.Y151delFs
c.451delT
Surrounding Variants
1 paper
NM_000112.4
p.Y151fs
c.451_452fs
1 paper
NM_000112.4
p.A147S
c.439G>T
1 paper
NM_000112.4
p.L153H
c.458T>A
1 paper
NM_000112.4
p.L154L
c.460T>C
3 papers
NM_000112.4
p.S157T
c.469T>A
2 papers
NM_000112.4
p.S157P
c.469T>C
1 paper
NM_000112.4
p.R158C
c.472C>T
1 paper
NM_000112.4
p.Y142fs
c.424_425fs
2 papers
NM_000112.4
p.L141P
c.422T>C
1 paper
NM_000112.4
p.H159Y
c.475C>T
1 paper
NM_000112.4
p.H159delFs
c.476delA
1 paper
NM_000112.4
p.G140delFs
c.418delG
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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."