Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.K59_V64delFs

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
45 papers
NM_000441.2
p.K59_V64delFs
c.176_191del16
Surrounding Variants
1 paper
NM_000441.2
p.R58R
c.174A>G
1 paper
NM_000441.2
p.R58T
c.173G>C
1 paper
NM_000441.2
p.R58fs
c.172_173fs
2 papers
NM_000441.2
p.S57S
c.171A>T
1 paper
NM_000441.2
p.R60T
c.179G>C
1 paper
NM_000441.2
p.R60insFs
c.180dupA
1 paper
NM_000441.2
p.R60I
c.179G>T
29 papers
NM_000441.2
p.S57*
c.170C>A
23 papers
NM_000441.2
p.S57*
c.170C>G
1 paper
NM_000441.2
p.A61T
c.181G>A
1 paper
NM_000441.2
p.A61S
c.181G>T
1 paper
NM_000441.2
p.A61D
c.182C>A
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