Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.N696K

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.N696K
c.2088C>G
Surrounding Variants
1 paper
NM_000112.4
p.N696K
c.2088C>A
5 papers
NM_000112.4
p.L694delFs
c.2082delA
1 paper
NM_000112.4
p.V690A
c.2069T>C
16 papers
NM_000112.4
p.T689S
c.2066C>G
1 paper
NM_000112.4
p.E704K
c.2110G>A
16 papers
NM_000112.4
p.T689S
c.2065A>T
1 paper
NM_000112.4
p.N706delFs
c.2116delA
1 paper
NM_000112.4
p.C686*
c.2058C>A
1 paper
NM_000112.4
p.L707insFs
c.2119_2120dupCT
1 paper
NM_000112.4
p.L707fs
c.2119_2120fs
2 papers
NM_000112.4
p.C686Y
c.2057G>A
1 paper
NM_000112.4
p.L708fs
c.2122_2123fs
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