Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.V398delFs

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.V398delFs
c.1194delA
Surrounding Variants
1 paper
NM_000112.4
p.S399P
c.1195T>C
1 paper
NM_000112.4
p.S399fs
c.1195_1196fs
5 papers
NM_000112.4
p.L400F
c.1198C>T
5 papers
NM_000112.4
p.A395V
c.1184C>T
2 papers
NM_000112.4
p.K407delFs
c.1221delA
1 paper
NM_000112.4
p.S390delFs
c.1168_1169delTC
1 paper
NM_000112.4
p.A388insFs
c.1163_1164insA
2 papers
NM_000112.4
p.G409D
c.1226G>A
1 paper
NM_000112.4
p.G409A
c.1226G>C
2 papers
NM_000112.4
p.G409V
c.1226G>T
1 paper
NM_000112.4
p.A386G
c.1157C>G
17 papers
NM_000112.4
p.A386V
c.1157C>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."