Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A479T

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.A479T
c.1435G>A
Surrounding Variants
2 papers
NM_000441.2
p.A479_V480Splc
c.1437+1G>A
1 paper
NM_000441.2
p.I477V
c.1429A>G
1 paper
NM_000441.2
p.N475delFs
c.1424delA
1 paper
NM_000441.2
p.R473K
c.1418G>A
4 papers
NM_000441.2
p.W472*
c.1416G>A
1 paper
NM_000441.2
p.W472C
c.1416G>C
1 paper
NM_000441.2
p.W472_R473insFs
c.1416_1417insAC
1 paper
NM_000441.2
p.W472C
c.1416G>T
4 papers
NM_000441.2
p.W472*
c.1415G>A
2 papers
NM_000441.2
p.W472R
c.1414T>A
2 papers
NM_000441.2
p.W472R
c.1414T>C
2 papers
NM_000441.2
p.L471P
c.1412T>C
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