Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A584A

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.A584A
c.1752G>A
Surrounding Variants
1 paper
NM_000441.2
p.A584E
c.1751C>A
1 paper
NM_000441.2
p.A584V
c.1751C>T
2 papers
NM_000441.2
p.A584fs
c.1750_1751fs
2 papers
NM_000441.2
p.I588_Q589ins3
c.1764_1765ins9
1 paper
NM_000441.2
p.R586insFs
c.1757_1758insG
1 paper
NM_000441.2
p.K583Q
c.1747A>C
1 paper
NM_000441.2
p.R586K
c.1757G>A
1 paper
NM_000441.2
p.L582P
c.1745T>C
23 papers
NM_000441.2
p.L582delFs
c.1746delG
11 papers
NM_000441.2
p.R581S
c.1743G>C
11 papers
NM_000441.2
p.R581S
c.1743G>T
1 paper
NM_000441.2
p.R581K
c.1742G>A
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