Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.S448*

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.S448*
c.1343C>A
Surrounding Variants
2 papers
NM_000112.4
p.S448*
c.1343C>G
1 paper
NM_000112.4
p.T449del1
c.1345_1347delACA
1 paper
NM_000112.4
p.K446*
c.1336A>T
1 paper
NM_000112.4
p.C451ins3
c.1352_1353ins9
1 paper
NM_000112.4
p.T443T
c.1329A>G
1 paper
NM_000112.4
p.Q454del1
c.1360_1361delCAG
1 paper
NM_000112.4
p.Q454fs
c.1360_1361fs
1 paper
NM_000112.4
p.Q454*
c.1360C>T
12 papers
NM_000112.4
p.Q454P
c.1361A>C
1 paper
NM_000112.4
p.Q454_L455del1
c.1362_1364delGCT
1 paper
NM_000112.4
p.L440insFs
c.1319dupT
1 paper
NM_000112.4
p.G457_V458del1
c.1371_1373delTGT
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