Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N246Y

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.N246Y
c.736A>T
Surrounding Variants
1 paper
NM_000441.2
p.N246fs
c.736_737fs
2 papers
NM_000441.2
p.N246H
c.736A>C
1 paper
NM_000441.2
p.N246fs
c.736_737fs
1 paper
NM_000441.2
p.N246T
c.737A>C
1 paper
NM_000441.2
p.N246I
c.737A>T
4 papers
NM_000441.2
p.N246K
c.738C>G
1 paper
NM_000441.2
p.K245E
c.733A>G
1 paper
NM_000441.2
p.N246delFs
c.737delA
1 paper
NM_000441.2
p.T244S
c.731C>G
1 paper
NM_000441.2
p.T244I
c.731C>T
1 paper
NM_000441.2
p.T244S
c.730A>T
1 paper
NM_000441.2
p.N248fs
c.742_743fs
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