Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F335L

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
60 papers
NM_000441.2
p.F335L
c.1005T>A
Surrounding Variants
5 papers
NM_000441.2
p.F335F
c.1005T>C
60 papers
NM_000441.2
p.F335L
c.1005T>G
2 papers
NM_000441.2
p.F335S
c.1004T>C
2 papers
NM_000441.2
p.L336_P337del1
c.1007_1009delTGC
2 papers
NM_000441.2
p.L336_P337del2
c.1006_1010del6
1 paper
NM_000441.2
p.F335I
c.1003T>A
69 papers
NM_000441.2
p.F335L
c.1003T>C
6 papers
NM_000441.2
p.F335V
c.1003T>G
1 paper
NM_000441.2
p.G334G
c.1002G>A
1 paper
NM_000441.2
p.P337S
c.1009C>T
1 paper
NM_000441.2
p.G334Splc
c.1002-1G>A
4 papers
NM_000441.2
p.G334Splc
c.1002-1G>T
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