Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S23*

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
11 papers
NM_000441.2
p.S23*
c.68C>A
Surrounding Variants
1 paper
NM_000441.2
p.S23S
c.69G>T
6 papers
NM_000441.2
p.R24G
c.70C>G
1 paper
NM_000441.2
p.R24delFs
c.72delG
5 papers
NM_000441.2
p.V22_S23insFs
c.66_67insT
1 paper
NM_000441.2
p.V22V
c.66G>T
1 paper
NM_000441.2
p.S23delFs
c.67delT
22 papers
NM_000441.2
p.R24Q
c.71G>A
7 papers
NM_000441.2
p.R24L
c.71G>T
1 paper
NM_000441.2
p.V22L
c.64G>C
1 paper
NM_000441.2
p.V22insFs
c.65dupT
1 paper
NM_000441.2
p.V22L
c.64G>T
2 papers
NM_000441.2
p.P25T
c.73C>A
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