Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.L608F

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
2 papers
NM_000112.4
p.L608F
c.1824A>C
Surrounding Variants
3 papers
NM_000112.4
p.T603fs
c.1807_1808fs
3 papers
NM_000112.4
p.Q602_T603delFs
c.1806_1809del4
1 paper
NM_000112.4
p.Y600fs
c.1798_1799fs
1 paper
NM_000112.4
p.Y600_K601delFs
c.1799_1802del4
3 papers
NM_000112.4
p.L599F
c.1797A>C
3 papers
NM_000112.4
p.L599F
c.1797A>T
1 paper
NM_000112.4
p.R619G
c.1855A>G
1 paper
NM_000112.4
p.T627fs
c.1879_1880fs
1 paper
NM_000112.4
p.G630V
c.1889G>T
1 paper
NM_000112.4
p.D633N
c.1897G>A
1 paper
NM_000112.4
p.V584delFs
c.1751delT
1 paper
NM_000112.4
p.M635delFs
c.1905delG
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