Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G131_T132insFs

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
1 paper
NM_000441.2
p.G131_T132insFs
c.393_394insG
Surrounding Variants
6 papers
NM_000441.2
p.G131V
c.392G>T
10 papers
NM_000441.2
p.T132I
c.395C>T
3 papers
NM_000441.2
p.G131R
c.391G>A
3 papers
NM_000441.2
p.G131R
c.391G>C
1 paper
NM_000441.2
p.F130L
c.390T>A
1 paper
NM_000441.2
p.F130L
c.390T>G
1 paper
NM_000441.2
p.F130_G131insFs
c.390_391insC
16 papers
NM_000441.2
p.S133T
c.397T>A
1 paper
NM_000441.2
p.S133insFs
c.398_399insC
5 papers
NM_000441.2
p.S133*
c.398C>A
5 papers
NM_000441.2
p.S133*
c.398C>G
5 papers
NM_000441.2
p.S133L
c.398C>T
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