Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q730H

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
5 papers
NM_000441.2
p.Q730H
c.2190G>T
Surrounding Variants
5 papers
NM_000441.2
p.Q730H
c.2190G>C
1 paper
NM_000441.2
p.N731S
c.2192A>G
1 paper
NM_000441.2
p.N731K
c.2193C>A
1 paper
NM_000441.2
p.N731K
c.2193C>G
6 papers
NM_000441.2
p.L729P
c.2186T>C
1 paper
NM_000441.2
p.L729fs
c.2185_2186fs
3 papers
NM_000441.2
p.Y728*
c.2184T>A
3 papers
NM_000441.2
p.Y728*
c.2184T>G
2 papers
NM_000441.2
p.Y728insFs
c.2183_2184insG
2 papers
NM_000441.2
p.Y728insFs
c.2183_2184insT
2 papers
NM_000441.2
p.Y728C
c.2183A>G
4 papers
NM_000441.2
p.Y728H
c.2182T>C
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