Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I713M

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
9 papers
NM_000441.2
p.I713M
c.2139T>G
Surrounding Variants
1 paper
NM_000441.2
p.R714insFs
c.2140dupA
1 paper
NM_000441.2
p.I713S
c.2138T>G
2 papers
NM_000441.2
p.I713V
c.2137A>G
3 papers
NM_000441.2
p.R714K
c.2141G>A
1 paper
NM_000441.2
p.N712N
c.2136C>T
2 papers
NM_000441.2
p.I713delFs
c.2137delA
1 paper
NM_000441.2
p.N712S
c.2135A>G
2 papers
NM_000441.2
p.N712I
c.2135A>T
1 paper
NM_000441.2
p.K715R
c.2144A>G
2 papers
NM_000441.2
p.N712Y
c.2134A>T
20 papers
NM_000441.2
p.K715N
c.2145G>C
23 papers
NM_000441.2
p.K715N
c.2145G>T
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