Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L597S

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
79 papers
NM_000441.2
p.L597S
c.1790T>C
Surrounding Variants
3 papers
NM_000441.2
p.L597*
c.1790T>A
2 papers
NM_000441.2
p.L597*
c.1790T>G
1 paper
NM_000441.2
p.L597F
c.1791A>C
1 paper
NM_000441.2
p.L597F
c.1791A>T
7 papers
NM_000441.2
p.Q596*
c.1786C>T
1 paper
NM_000441.2
p.A599T
c.1795G>A
1 paper
NM_000441.2
p.A599V
c.1796C>T
1 paper
NM_000441.2
p.G595E
c.1784G>A
1 paper
NM_000441.2
p.G595R
c.1783G>A
1 paper
NM_000441.2
p.T600A
c.1798A>G
1 paper
NM_000441.2
p.K593E
c.1777A>G
9 papers
NM_000441.2
p.K601K
c.1803G>A
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