Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.I426T

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.I426T
c.1277T>C
Surrounding Variants
1 paper
NM_000112.4
p.I426N
c.1277T>A
1 paper
NM_000112.4
p.I426V
c.1276A>G
17 papers
NM_000112.4
p.N425D
c.1273A>G
1 paper
NM_000112.4
p.P428S
c.1282C>T
1 paper
NM_000112.4
p.C424fs
c.1270_1271fs
1 paper
NM_000112.4
p.F423_C424delFs
c.1269_1272del4
1 paper
NM_000112.4
p.C424delFs
c.1270delT
1 paper
NM_000112.4
p.F430insFs
c.1288_1289insTA
1 paper
NM_000112.4
p.F430_H432del0
c.1289_1294del6
2 papers
NM_000112.4
p.I421T
c.1262T>C
1 paper
NM_000112.4
p.H432R
c.1295A>G
1 paper
NM_000112.4
p.Y419H
c.1255T>C
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