Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P297delFs

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
12 papers
NM_000441.2
p.P297delFs
c.890delC
Surrounding Variants
1 paper
NM_000441.2
p.I296N
c.887T>A
2 papers
NM_000441.2
p.I296V
c.886A>G
1 paper
NM_000441.2
p.P297S
c.889C>T
4 papers
NM_000441.2
p.P297fs
c.889_890fs
5 papers
NM_000441.2
p.P297Q
c.890C>A
1 paper
NM_000441.2
p.V298I
c.892G>A
1 paper
NM_000441.2
p.H294R
c.881A>G
1 paper
NM_000441.2
p.H294Y
c.880C>T
1 paper
NM_000441.2
p.H294fs
c.880_881fs
12 papers
NM_000441.2
p.P299_I300del2
c.895_899del6
1 paper
NM_000441.2
p.P299A
c.895C>G
1 paper
NM_000441.2
p.P299S
c.895C>T
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