Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.V340_V341del1

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
18 papers
NM_000112.4
p.V340_V341del1
c.1020_1022delTGT
Surrounding Variants
4 papers
NM_000112.4
p.L337_V338del2
c.1009_1013del6
1 paper
NM_000112.4
p.E336Q
c.1006G>C
8 papers
NM_000112.4
p.V341del1
c.1021_1022delGTA
1 paper
NM_000112.4
p.A342S
c.1024G>T
1 paper
NM_000112.4
p.S347C
c.1040C>G
1 paper
NM_000112.4
p.K326R
c.977A>G
1 paper
NM_000112.4
p.F349del1
c.1045_1047delTTT
1 paper
NM_000112.4
p.F349Y
c.1046T>A
1 paper
NM_000112.4
p.L352_H353insFs
c.1056_1057insC
1 paper
NM_000112.4
p.L321F
c.961C>T
1 paper
NM_000112.4
p.L321delFs
c.961delC
1 paper
NM_000112.4
p.S358F
c.1073C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."