Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q514K

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
26 papers
NM_000441.2
p.Q514K
c.1540C>A
Surrounding Variants
25 papers
NM_000441.2
p.Q514*
c.1540C>T
21 papers
NM_000441.2
p.Q514R
c.1541A>G
1 paper
NM_000441.2
p.Q514H
c.1542G>C
1 paper
NM_000441.2
p.Q514H
c.1542G>T
1 paper
NM_000441.2
p.F515delFs
c.1544delT
6 papers
NM_000441.2
p.F515L
c.1543T>C
1 paper
NM_000441.2
p.R512S
c.1536A>C
2 papers
NM_000441.2
p.R512S
c.1536A>T
4 papers
NM_000441.2
p.F515S
c.1544T>C
5 papers
NM_000441.2
p.F515C
c.1544T>G
1 paper
NM_000441.2
p.R512T
c.1535G>C
3 papers
NM_000441.2
p.F515Splc
c.1544+1G>T
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