Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.C565R

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
4 papers
NM_000441.2
p.C565R
c.1693T>C
Surrounding Variants
2 papers
NM_000441.2
p.C565G
c.1693T>G
10 papers
NM_000441.2
p.C565insFs
c.1693_1694insA
3 papers
NM_000441.2
p.C565fs
c.1693_1694fs
8 papers
NM_000441.2
p.C565fs
c.1693_1694fs
39 papers
NM_000441.2
p.C565Y
c.1694G>A
1 paper
NM_000441.2
p.K564R
c.1691A>G
1 paper
NM_000441.2
p.K564fs
c.1690_1691fs
1 paper
NM_000441.2
p.I566V
c.1696A>G
1 paper
NM_000441.2
p.K564fs
c.1690_1691fs
1 paper
NM_000441.2
p.I566M
c.1698C>G
1 paper
NM_000441.2
p.K567Q
c.1699A>C
5 papers
NM_000441.2
p.K567*
c.1699A>T
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