Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D560V

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.D560V
c.1679A>T
Surrounding Variants
8 papers
NM_000441.2
p.D560N
c.1678G>A
1 paper
NM_000441.2
p.D560H
c.1678G>C
1 paper
NM_000441.2
p.G561D
c.1682G>A
1 paper
NM_000441.2
p.G561V
c.1682G>T
1 paper
NM_000441.2
p.V559_D560insA
c.1675_1679ins3
4 papers
NM_000441.2
p.N558K
c.1674T>A
4 papers
NM_000441.2
p.N558K
c.1674T>G
4 papers
NM_000441.2
p.N558S
c.1673A>G
19 papers
NM_000441.2
p.N558I
c.1673A>T
1 paper
NM_000441.2
p.N558H
c.1672A>C
34 papers
NM_000441.2
p.K564insFs
c.1692dupA
5 papers
NM_000441.2
p.K564delFs
c.1692delA
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