Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V212V

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.V212V
c.636G>T
Surrounding Variants
1 paper
NM_000441.2
p.V212E
c.635T>A
1 paper
NM_000441.2
p.V212A
c.635T>C
1 paper
NM_000441.2
p.I211T
c.632T>C
1 paper
NM_000441.2
p.Y214D
c.640T>G
1 paper
NM_000441.2
p.Y214insFs
c.640_641insC
6 papers
NM_000441.2
p.Y214C
c.641A>G
1 paper
NM_000441.2
p.Y214F
c.641A>T
5 papers
NM_000441.2
p.L215S
c.644T>C
1 paper
NM_000441.2
p.F210del1
c.628_630delTTC
6 papers
NM_000441.2
p.G209E
c.626G>A
1 paper
NM_000441.2
p.A216_D217insA
c.646_650ins3
64 papers
NM_000441.2
p.G209V
c.626G>T
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