Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R512_V513delFs

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.R512_V513delFs
c.1536_1537delAG
Surrounding Variants
7 papers
NM_000441.2
p.L511_R512ins4
c.1531_1535ins12
1 paper
NM_000441.2
p.R512_V513ins4
c.1534_1538ins12
1 paper
NM_000441.2
p.R512*
c.1534A>T
1 paper
NM_000441.2
p.R512fs
c.1534_1535fs
1 paper
NM_000441.2
p.L511_R512del2
c.1531_1535del6
1 paper
NM_000441.2
p.R512T
c.1535G>C
7 papers
NM_000441.2
p.V510D
c.1529T>A
1 paper
NM_000441.2
p.R512S
c.1536A>C
2 papers
NM_000441.2
p.R512S
c.1536A>T
2 papers
NM_000441.2
p.V510I
c.1528G>A
1 paper
NM_000441.2
p.V510Fs
c.1528delinsACFs
2 papers
NM_000441.2
p.V509G
c.1526T>G
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