Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N519Y

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.N519Y
c.1555A>T
Surrounding Variants
169 papers
NM_000441.2
p.N519D
c.1555A>G
1 paper
NM_000441.2
p.G520insFs
c.1558_1559ins4
9 papers
NM_000441.2
p.W518*
c.1554G>A
1 paper
NM_000441.2
p.N519delFs
c.1555_1556delAA
8 papers
NM_000441.2
p.W518*
c.1553G>A
1 paper
NM_000441.2
p.S517P
c.1549T>C
2 papers
NM_000441.2
p.S517fs
c.1549_1550fs
6 papers
NM_000441.2
p.S517fs
c.1549_1550fs
31 papers
NM_000441.2
p.P516_S517insFs
c.1548_1549insC
1 paper
NM_000441.2
p.P516_S517insFs
c.1548_1549insG
1 paper
NM_000441.2
p.P516L
c.1547C>T
5 papers
NM_000441.2
p.P516S
c.1546C>T
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