Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V659L

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
143 papers
NM_000441.2
p.V659L
c.1975G>C
Surrounding Variants
83 papers
NM_000441.2
p.V659L
c.1975G>T
1 paper
NM_000441.2
p.V659E
c.1976T>A
1 paper
NM_000441.2
p.V659A
c.1976T>C
2 papers
NM_000441.2
p.V659G
c.1976T>G
2 papers
NM_000441.2
p.L660V
c.1978C>G
1 paper
NM_000441.2
p.L658F
c.1972C>T
1 paper
NM_000441.2
p.S657R
c.1971C>A
1 paper
NM_000441.2
p.S657R
c.1971C>G
3 papers
NM_000441.2
p.L660R
c.1979T>G
21 papers
NM_000441.2
p.S657N
c.1970G>A
5 papers
NM_000441.2
p.S657I
c.1970G>T
1 paper
NM_000441.2
p.S657R
c.1969A>C
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