Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A479_V480Splc

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.A479_V480Splc
c.1438-2A>G
Surrounding Variants
18 papers
NM_000441.2
p.V480D
c.1439T>A
1 paper
NM_000441.2
p.V480A
c.1439T>C
3 papers
NM_000441.2
p.V480V
c.1440T>A
1 paper
NM_000441.2
p.I481_V483del3
c.1441_1448del9
2 papers
NM_000441.2
p.W482*
c.1445G>A
1 paper
NM_000441.2
p.W482S
c.1445G>C
2 papers
NM_000441.2
p.W482*
c.1446G>A
1 paper
NM_000441.2
p.V483L
c.1447G>C
1 paper
NM_000441.2
p.V483L
c.1447G>T
4 papers
NM_000441.2
p.V483E
c.1448T>A
1 paper
NM_000441.2
p.V483A
c.1448T>C
1 paper
NM_000441.2
p.F484L
c.1450T>C
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