Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.G166R

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
4 papers
NM_000112.4
p.G166R
c.496G>A
Surrounding Variants
4 papers
NM_000112.4
p.G166R
c.496G>C
1 paper
NM_000112.4
p.G166A
c.497G>C
1 paper
NM_000112.4
p.G163D
c.488G>A
1 paper
NM_000112.4
p.V162M
c.484G>A
5 papers
NM_000112.4
p.V162L
c.484G>C
2 papers
NM_000112.4
p.V162fs
c.484_485fs
6 papers
NM_000112.4
p.V162L
c.484G>T
3 papers
NM_000112.4
p.V162fs
c.484_485fs
1 paper
NM_000112.4
p.S161delFs
c.483delT
4 papers
NM_000112.4
p.V162delFs
c.485_486delTG
1 paper
NM_000112.4
p.S161fs
c.481_482fs
1 paper
NM_000112.4
p.M171_D177del0
c.513_530del18
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."