Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S252P

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
83 papers
NM_000441.2
p.S252P
c.754T>C
Surrounding Variants
1 paper
NM_000441.2
p.S252A
c.754T>G
1 paper
NM_000441.2
p.S252Y
c.755C>A
1 paper
NM_000441.2
p.L251L
c.753C>T
1 paper
NM_000441.2
p.S252F
c.755C>T
1 paper
NM_000441.2
p.L251P
c.752T>C
15 papers
NM_000441.2
p.I253V
c.757A>G
1 paper
NM_000441.2
p.L251I
c.751C>A
1 paper
NM_000441.2
p.L251delins
c.751_752delinsTC
8 papers
NM_000441.2
p.V250A
c.749T>C
1 paper
NM_000441.2
p.I254insFs
c.760_761insA
2 papers
NM_000441.2
p.L251_S252delFs
c.753_756del4
3 papers
NM_000441.2
p.I254V
c.760A>G
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