Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I260S

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.I260S
c.779T>G
Surrounding Variants
5 papers
NM_000441.2
p.F261insFs
c.783dupT
1 paper
NM_000441.2
p.I260V
c.778A>G
2 papers
NM_000441.2
p.E259D
c.777G>C
2 papers
NM_000441.2
p.E259D
c.777G>T
1 paper
NM_000441.2
p.E259Q
c.775G>C
2 papers
NM_000441.2
p.Q262insFs
c.784_785insT
1 paper
NM_000441.2
p.Q262*
c.784C>T
1 paper
NM_000441.2
p.E259_I260delFs
c.775_779del5
1 paper
NM_000441.2
p.N263I
c.788A>T
1 paper
NM_000441.2
p.L257P
c.770T>C
1 paper
NM_000441.2
p.I264_G265insCA
c.790_794ins6
1 paper
NM_000441.2
p.I264F
c.790A>T
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