Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.C653S

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
46 papers
NM_000112.4
p.C653S
c.1958G>C
Surrounding Variants
1 paper
NM_000112.4
p.C653Y
c.1958G>A
1 paper
NM_000112.4
p.C653*
c.1959C>A
48 papers
NM_000112.4
p.C653S
c.1957T>A
1 paper
NM_000112.4
p.C653G
c.1957T>G
2 papers
NM_000112.4
p.D652N
c.1954G>A
1 paper
NM_000112.4
p.I656_L659del4
c.1966_1976del12
1 paper
NM_000112.4
p.V650V
c.1950G>C
1 paper
NM_000112.4
p.V650V
c.1950G>T
1 paper
NM_000112.4
p.Q657_T661del5
c.1969_1982del15
1 paper
NM_000112.4
p.L659delFs
c.1976delT
1 paper
NM_000112.4
p.F658I
c.1972T>A
2 papers
NM_000112.4
p.L659*
c.1976T>A
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