Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S55delFs

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.S55delFs
c.165delT
Surrounding Variants
12 papers
NM_000441.2
p.S55Splc
c.165-1G>A
2 papers
NM_000441.2
p.S55Splc
c.165-1G>C
10 papers
NM_000441.2
p.S55Splc
c.165-2A>G
1 paper
NM_000441.2
p.S55Splc
c.165-3C>G
1 paper
NM_000441.2
p.C56insFs
c.167dupG
1 paper
NM_000441.2
p.C56delFs
c.167delG
2 papers
NM_000441.2
p.S55Splc
c.165-5G>A
1 paper
NM_000441.2
p.C56W
c.168T>G
29 papers
NM_000441.2
p.S57*
c.170C>A
23 papers
NM_000441.2
p.S57*
c.170C>G
2 papers
NM_000441.2
p.S57S
c.171A>T
1 paper
NM_000441.2
p.R58fs
c.172_173fs
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