Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V570I

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
8 papers
NM_000441.2
p.V570I
c.1708G>A
Surrounding Variants
2 papers
NM_000441.2
p.V570L
c.1708G>C
1 paper
NM_000441.2
p.V570F
c.1708G>T
2 papers
NM_000441.2
p.T569_V570Splc
c.1708-1G>A
1 paper
NM_000441.2
p.V570A
c.1709T>C
1 paper
NM_000441.2
p.T569_V570Splc
c.1708-2A>T
1 paper
NM_000441.2
p.G571delFs
c.1712delG
1 paper
NM_000441.2
p.T569_V570Splc
c.1708-3A>G
1 paper
NM_000441.2
p.G571E
c.1712G>A
1 paper
NM_000441.2
p.F572_I575del0
c.1714_1725del12
12 papers
NM_000441.2
p.F572L
c.1714T>C
3 papers
NM_000441.2
p.F572V
c.1714T>G
13 papers
NM_000441.2
p.F572L
c.1716T>A
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