Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L171insFs

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
8 papers
NM_000441.2
p.L171insFs
c.511_512ins4
Surrounding Variants
1 paper
NM_000441.2
p.L171delFs
c.511_512delTT
1 paper
NM_000441.2
p.L171S
c.512T>C
1 paper
NM_000441.2
p.L171ins1
c.512_513insAAC
14 papers
NM_000441.2
p.L171insFs
c.512_513ins4
2 papers
NM_000441.2
p.L171insFs
c.512_513ins4
2 papers
NM_000441.2
p.V170insFs
c.509_510insA
1 paper
NM_000441.2
p.V170I
c.508G>A
1 paper
NM_000441.2
p.V170delFs
c.509delT
1 paper
NM_000441.2
p.N172S
c.515A>G
3 papers
NM_000441.2
p.T169_V170insFs
c.507_508ins4
1 paper
NM_000441.2
p.V170insFs
c.508_509ins4
4 papers
NM_000441.2
p.V170_L171insFs
c.508_511dup4
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