Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F504S

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
2 papers
NM_000441.2
p.F504S
c.1511T>C
Surrounding Variants
1 paper
NM_000441.2
p.G505R
c.1513G>A
1 paper
NM_000441.2
p.G505R
c.1513G>C
1 paper
NM_000441.2
p.G505A
c.1514G>C
1 paper
NM_000441.2
p.L506L
c.1516C>T
1 paper
NM_000441.2
p.I503delFs
c.1507delA
17 papers
NM_000441.2
p.L506R
c.1517T>G
1 paper
NM_000441.2
p.L502F
c.1504C>T
26 papers
NM_000441.2
p.L507delFs
c.1520delT
1 paper
NM_000441.2
p.G501G
c.1503C>A
1 paper
NM_000441.2
p.G501D
c.1502G>A
10 papers
NM_000441.2
p.L507*
c.1520T>A
1 paper
NM_000441.2
p.L507W
c.1520T>G
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