Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_000112.4
p.M1V
c.1A>G
2 papers
NM_000112.4
p.M1I
c.3G>C
1 paper
NM_000112.4
p.M1_S2insFs
c.3_4insA
1 paper
NM_000112.4
p.E7K
c.19G>A
1 paper
NM_000112.4
p.E7V
c.20A>T
1 paper
NM_000112.4
p.S12L
c.35C>T
2 papers
NM_000112.4
p.S16*
c.47C>A
2 papers
NM_000112.4
p.S16*
c.47C>G
3 papers
NM_000112.4
p.G19*
c.55G>T
1 paper
NM_000112.4
p.S22_Y23insFs
c.66_67insCT
1 paper
NM_000112.4
p.P24T
c.70C>A
2 papers
NM_000112.4
p.P24S
c.70C>T
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