Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S90*

SLC26A4

1,372 papers

RefSeq Summary

Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar ...

Pfam Domains

Sulfate_transpaa 84–485UCSCSulfate permease family
STASaa 536–725UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 4

HGNC Previous Symbol

DFNB4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000441.2
p.S90*
c.269C>A
Surrounding Variants
2 papers
NM_000441.2
p.S90insFs
c.269_270insT
56 papers
NM_000441.2
p.S90L
c.269C>T
2 papers
NM_000441.2
p.S90S
c.270G>A
1 paper
NM_000441.2
p.S90insFs
c.269dupC
1 paper
NM_000441.2
p.I89I
c.267T>C
1 paper
NM_000441.2
p.G91V
c.272G>T
1 paper
NM_000441.2
p.I89T
c.266T>C
1 paper
NM_000441.2
p.G91G
c.273A>G
1 paper
NM_000441.2
p.G91G
c.273A>T
11 papers
NM_000441.2
p.I89delFs
c.266delT
1 paper
NM_000441.2
p.V88_I89insFs
c.264_265insCA
1 paper
NM_000441.2
p.V88V
c.264C>T
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