Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D661fs

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.D661fs
c.1981_1982fs
Surrounding Variants
2 papers
NM_000441.2
p.D661N
c.1981G>A
3 papers
NM_000441.2
p.D661Y
c.1981G>T
2 papers
NM_000441.2
p.D661G
c.1982A>G
1 paper
NM_000441.2
p.D661_S666Fs
c.1982_1996delinsGGFs
20 papers
NM_000441.2
p.D661E
c.1983C>A
18 papers
NM_000441.2
p.D661E
c.1983C>G
3 papers
NM_000441.2
p.L660R
c.1979T>G
2 papers
NM_000441.2
p.L660V
c.1978C>G
1 paper
NM_000441.2
p.C662_G663insG
c.1984_1988ins3
15 papers
NM_000441.2
p.C662Y
c.1985G>A
1 paper
NM_000441.2
p.V659E
c.1976T>A
1 paper
NM_000441.2
p.V659A
c.1976T>C
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