Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D385Y

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.D385Y
c.1153G>T
Surrounding Variants
7 papers
NM_000112.4
p.D385N
c.1153G>A
1 paper
NM_000112.4
p.D385G
c.1154A>G
1 paper
NM_000112.4
p.D385del1
c.1153_1154delGAT
1 paper
NM_000112.4
p.A386G
c.1157C>G
17 papers
NM_000112.4
p.A386V
c.1157C>T
1 paper
NM_000112.4
p.V382delFs
c.1146delG
1 paper
NM_000112.4
p.A388insFs
c.1163_1164insA
1 paper
NM_000112.4
p.S390delFs
c.1168_1169delTC
1 paper
NM_000112.4
p.I379insFs
c.1135_1136insA
5 papers
NM_000112.4
p.A395V
c.1184C>T
2 papers
NM_000112.4
p.P374S
c.1120C>T
1 paper
NM_000112.4
p.P374del1
c.1120_1122delCCA
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