Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T278fs

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.T278fs
c.832_833fs
Surrounding Variants
1 paper
NM_000441.2
p.T278A
c.832A>G
1 paper
NM_000441.2
p.T278delFs
c.833delC
1 paper
NM_000441.2
p.T278I
c.833C>T
1 paper
NM_000441.2
p.I279V
c.835A>G
1 paper
NM_000441.2
p.L276F
c.828G>C
1 paper
NM_000441.2
p.L276F
c.828G>T
1 paper
NM_000441.2
p.I279I
c.837T>A
1 paper
NM_000441.2
p.I279M
c.837T>G
1 paper
NM_000441.2
p.V280I
c.838G>A
1 paper
NM_000441.2
p.L276V
c.826T>G
5 papers
NM_000441.2
p.V281I
c.841G>A
2 papers
NM_000441.2
p.G275R
c.823G>A
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