Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S532I

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
26 papers
NM_000441.2
p.S532I
c.1595G>T
Surrounding Variants
31 papers
NM_000441.2
p.S532R
c.1594A>C
2 papers
NM_000441.2
p.S532G
c.1594A>G
26 papers
NM_000441.2
p.S532R
c.1596T>A
26 papers
NM_000441.2
p.S532R
c.1596T>G
1 paper
NM_000441.2
p.K531T
c.1592A>C
1 paper
NM_000441.2
p.K531R
c.1592A>G
1 paper
NM_000441.2
p.K531Q
c.1591A>C
1 paper
NM_000441.2
p.K531E
c.1591A>G
2 papers
NM_000441.2
p.Y530*
c.1590C>A
3 papers
NM_000441.2
p.Y530*
c.1590C>G
13 papers
NM_000441.2
p.Y530S
c.1589A>C
1 paper
NM_000441.2
p.K534N
c.1602G>C
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