Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I305_V306insFs

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
47 papers
NM_000441.2
p.I305_V306insFs
c.915_916insG
Surrounding Variants
6 papers
NM_000441.2
p.V306M
c.916G>A
1 paper
NM_000441.2
p.V306L
c.916G>C
4 papers
NM_000441.2
p.V306fs
c.916_917fs
1 paper
NM_000441.2
p.V306L
c.916G>T
9 papers
NM_000441.2
p.V306delFs
c.917delT
10 papers
NM_000441.2
p.V306fs
c.916_917fs
2 papers
NM_000441.2
p.I305T
c.914T>C
2 papers
NM_000441.2
p.I305fs
c.913_914fs
3 papers
NM_000441.2
p.V306G
c.917T>G
25 papers
NM_000441.2
p.V306insFs
c.917_918insG
4 papers
NM_000441.2
p.V306V
c.918G>A
11 papers
NM_000441.2
p.V306_T307Splc
c.918+1G>A
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