Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.H294fs

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.H294fs
c.880_881fs
Surrounding Variants
1 paper
NM_000441.2
p.H294Y
c.880C>T
1 paper
NM_000441.2
p.H294R
c.881A>G
1 paper
NM_000441.2
p.H294_K295delFs
c.882_883delCA
2 papers
NM_000441.2
p.I296V
c.886A>G
1 paper
NM_000441.2
p.I296N
c.887T>A
12 papers
NM_000441.2
p.P297delFs
c.890delC
3 papers
NM_000441.2
p.R291Q
c.872G>A
1 paper
NM_000441.2
p.R291L
c.872G>T
1 paper
NM_000441.2
p.R291_F292insA
c.871_875ins3
2 papers
NM_000441.2
p.R291W
c.871C>T
1 paper
NM_000441.2
p.P297S
c.889C>T
4 papers
NM_000441.2
p.P297fs
c.889_890fs
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