Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G497S

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
67 papers
NM_000441.2
p.G497S
c.1489G>A
Surrounding Variants
9 papers
NM_000441.2
p.G497R
c.1489G>C
3 papers
NM_000441.2
p.G497C
c.1489G>T
1 paper
NM_000441.2
p.L496L
c.1488C>T
1 paper
NM_000441.2
p.G497insFs
c.1490_1491insAA
1 paper
NM_000441.2
p.L496R
c.1487T>G
2 papers
NM_000441.2
p.L496F
c.1486C>T
2 papers
NM_000441.2
p.L498L
c.1494A>G
1 paper
NM_000441.2
p.L499I
c.1495C>A
2 papers
NM_000441.2
p.D495N
c.1483G>A
1 paper
NM_000441.2
p.L499P
c.1496T>C
1 paper
NM_000441.2
p.G501insFs
c.1501_1502ins4
1 paper
NM_000441.2
p.A500_G501ins6
c.1500_1501ins18
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