Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.L465fs

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.L465fs
c.1393_1394fs
Surrounding Variants
1 paper
NM_000112.4
p.L465delFs
c.1394delT
1 paper
NM_000112.4
p.V467D
c.1400T>A
2 papers
NM_000112.4
p.A461V
c.1382C>T
1 paper
NM_000112.4
p.V459ins0
c.1375_1377dupGTA
1 paper
NM_000112.4
p.I471K
c.1412T>A
1 paper
NM_000112.4
p.G457_V458del1
c.1371_1373delTGT
1 paper
NM_000112.4
p.L474delFs
c.1421delT
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.Q454fs
c.1360_1361fs
1 paper
NM_000112.4
p.Q454*
c.1360C>T
1 paper
NM_000112.4
p.Q454del1
c.1360_1361delCAG
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