Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S448L

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
56 papers
NM_000441.2
p.S448L
c.1343C>T
Surrounding Variants
27 papers
NM_000441.2
p.S448*
c.1343C>A
2 papers
NM_000441.2
p.S448W
c.1343C>G
1 paper
NM_000441.2
p.S448S
c.1344G>A
2 papers
NM_000441.2
p.S448_V449insFs
c.1344_1345ins4
1 paper
NM_000441.2
p.S448_A452ins1
c.1344_1355dup12
1 paper
NM_000441.2
p.S448fs
c.1342_1343fs
1 paper
NM_000441.2
p.V449insFs
c.1345_1346ins4
1 paper
NM_000441.2
p.S448_A452delFs
c.1342_1355del14
1 paper
NM_000441.2
p.K447_S448Splc
c.1342-2A>C
1 paper
NM_000441.2
p.V449A
c.1346T>C
2 papers
NM_000441.2
p.L450delFs
c.1348delT
1 paper
NM_000441.2
p.S448insFs
c.1343_1344ins4
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