Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.L104I

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.L104I
c.310C>A
Surrounding Variants
1 paper
NM_000112.4
p.L104V
c.310C>G
1 paper
NM_000112.4
p.L104R
c.311T>G
1 paper
NM_000112.4
p.L104insFs
c.311_312insG
1 paper
NM_000112.4
p.L104delFs
c.310delC
2 papers
NM_000112.4
p.P100fs
c.298_299fs
2 papers
NM_000112.4
p.P100delFs
c.299delC
3 papers
NM_000112.4
p.W98R
c.292T>A
4 papers
NM_000112.4
p.W98R
c.292T>C
1 paper
NM_000112.4
p.W98fs
c.292_293fs
1 paper
NM_000112.4
p.W98delFs
c.293delG
1 paper
NM_000112.4
p.G110E
c.329G>A
4 papers
NM_000112.4
p.D111Y
c.331G>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."