Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S399_C400delFs

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.S399_C400delFs
c.1197_1198delTT
Surrounding Variants
2 papers
NM_000441.2
p.S399F
c.1196C>T
48 papers
NM_000441.2
p.C400delFs
c.1198delT
13 papers
NM_000441.2
p.S399P
c.1195T>C
2 papers
NM_000441.2
p.S399fs
c.1195_1196fs
3 papers
NM_000441.2
p.C400fs
c.1198_1199fs
16 papers
NM_000441.2
p.C400fs
c.1198_1199fs
1 paper
NM_000441.2
p.C400_R409del0
c.1199_1225del27
3 papers
NM_000441.2
p.C400insFs
c.1199_1200insT
1 paper
NM_000441.2
p.F398_S399insC
c.1192_1196ins3
1 paper
NM_000441.2
p.F401S
c.1202T>C
1 paper
NM_000441.2
p.F397L
c.1189T>C
12 papers
NM_000441.2
p.V402M
c.1204G>A
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