Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.M196I

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.M196I
c.588G>A
Surrounding Variants
1 paper
NM_000112.4
p.M196I
c.588G>C
1 paper
NM_000112.4
p.M196I
c.588G>T
1 paper
NM_000112.4
p.S198_N199insFs
c.594_595insC
1 paper
NM_000112.4
p.G200insFs
c.599_600insA
1 paper
NM_000112.4
p.H189R
c.566A>G
1 paper
NM_000112.4
p.H189insFs
c.566dupA
1 paper
NM_000112.4
p.H189Y
c.565C>T
2 papers
NM_000112.4
p.L204*
c.611T>A
2 papers
NM_000112.4
p.L204*
c.611T>G
1 paper
NM_000112.4
p.N187insFs
c.560_561insA
1 paper
NM_000112.4
p.D186D
c.558C>T
1 paper
NM_000112.4
p.D209Y
c.625G>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."