Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F709delFs

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
15 papers
NM_000441.2
p.F709delFs
c.2127delT
Surrounding Variants
2 papers
NM_000441.2
p.F708S
c.2123T>C
2 papers
NM_000441.2
p.F708delFs
c.2124delC
5 papers
NM_000441.2
p.F709fs
c.2125_2126fs
1 paper
NM_000441.2
p.G707V
c.2120G>T
1 paper
NM_000441.2
p.G707R
c.2119G>A
1 paper
NM_000441.2
p.G707R
c.2119G>C
2 papers
NM_000441.2
p.G707W
c.2119G>T
7 papers
NM_000441.2
p.C706*
c.2118C>A
3 papers
NM_000441.2
p.D710D
c.2130C>T
1 paper
NM_000441.2
p.C706Y
c.2117G>A
1 paper
NM_000441.2
p.D711N
c.2131G>A
1 paper
NM_000441.2
p.D711Y
c.2131G>T
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