Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L215S

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
5 papers
NM_000441.2
p.L215S
c.644T>C
Surrounding Variants
1 paper
NM_000441.2
p.A216_D217insA
c.646_650ins3
6 papers
NM_000441.2
p.Y214C
c.641A>G
1 paper
NM_000441.2
p.Y214F
c.641A>T
1 paper
NM_000441.2
p.A216V
c.647C>T
1 paper
NM_000441.2
p.Y214D
c.640T>G
1 paper
NM_000441.2
p.Y214insFs
c.640_641insC
1 paper
NM_000441.2
p.D217insFs
c.649_650insC
1 paper
NM_000441.2
p.D217fs
c.649_650fs
7 papers
NM_000441.2
p.D217G
c.650A>G
1 paper
NM_000441.2
p.V212V
c.636G>T
1 paper
NM_000441.2
p.L219insFs
c.655_656dupTT
1 paper
NM_000441.2
p.P218L
c.653C>T
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