Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V545G

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.V545G
c.1634T>G
Surrounding Variants
9 papers
NM_000441.2
p.V545E
c.1634T>A
10 papers
NM_000441.2
p.V545A
c.1634T>C
1 paper
NM_000441.2
p.V545M
c.1633G>A
1 paper
NM_000441.2
p.K546E
c.1636A>G
2 papers
NM_000441.2
p.G544E
c.1631G>A
2 papers
NM_000441.2
p.G544_V545insA
c.1630_1634ins3
2 papers
NM_000441.2
p.I547V
c.1639A>G
1 paper
NM_000441.2
p.I547T
c.1640T>C
1 paper
NM_000441.2
p.I547M
c.1641T>G
7 papers
NM_000441.2
p.P542R
c.1625C>G
1 paper
NM_000441.2
p.P542L
c.1625C>T
1 paper
NM_000441.2
p.P542T
c.1624C>A
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