Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S55Splc

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.S55Splc
c.165-28A>C
Surrounding Variants
1 paper
NM_000441.2
p.S55Splc
c.165-29G>T
1 paper
NM_000441.2
p.S55Splc
c.165-30T>A
1 paper
NM_000441.2
p.S55Splc
c.165-31T>C
1 paper
NM_000441.2
p.S55Splc
c.165-32A>G
1 paper
NM_000441.2
p.S55Splc
c.165-33G>A
1 paper
NM_000441.2
p.S55Splc
c.165-22C>T
1 paper
NM_000441.2
p.S55Splc
c.165-20G>C
1 paper
NM_000441.2
p.S55Splc
c.165-38G>A
1 paper
NM_000441.2
p.S55Splc
c.165-42C>T
1 paper
NM_000441.2
p.S55Splc
c.165-13T>C
5 papers
NM_000441.2
p.S55Splc
c.165-13T>G
1 paper
NM_000441.2
p.S55Splc
c.165-49G>T
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