Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E625*

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
10 papers
NM_000441.2
p.E625*
c.1873G>T
Surrounding Variants
3 papers
NM_000441.2
p.L624V
c.1870C>G
1 paper
NM_000441.2
p.L627F
c.1879C>T
4 papers
NM_000441.2
p.L627R
c.1880T>G
1 paper
NM_000441.2
p.D628_P630del3
c.1882_1889del9
1 paper
NM_000441.2
p.E622K
c.1864G>A
1 paper
NM_000441.2
p.D628delFs
c.1883delA
5 papers
NM_000441.2
p.I621delFs
c.1863delT
1 paper
NM_000441.2
p.T631insFs
c.1891dupA
1 paper
NM_000441.2
p.T631S
c.1891A>T
2 papers
NM_000441.2
p.E633K
c.1897G>A
4 papers
NM_000441.2
p.E633delFs
c.1898delA
1 paper
NM_000441.2
p.E616D
c.1848G>C
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