Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.K550delFs

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
3 papers
NM_000112.4
p.K550delFs
c.1650delG
Surrounding Variants
2 papers
NM_000112.4
p.S551fs
c.1651_1652fs
1 paper
NM_000112.4
p.S552delFs
c.1654delT
1 paper
NM_000112.4
p.L553insFs
c.1657_1658insC
1 paper
NM_000112.4
p.L554F
c.1660C>T
1 paper
NM_000112.4
p.T546A
c.1636A>G
2 papers
NM_000112.4
p.R545C
c.1633C>T
1 paper
NM_000112.4
p.E559delFs
c.1677delG
1 paper
NM_000112.4
p.V533_G534insG
c.1597_1601ins3
1 paper
NM_000112.4
p.G530S
c.1588G>A
1 paper
NM_000112.4
p.Q573P
c.1718A>C
1 paper
NM_000112.4
p.T527P
c.1579A>C
1 paper
NM_000112.4
p.S526N
c.1577G>A
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