Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G368E

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.G368E
c.1103G>A
Surrounding Variants
1 paper
NM_000441.2
p.G368A
c.1103G>C
2 papers
NM_000441.2
p.G368Fs
c.1103_1104delinsCFs
2 papers
NM_000441.2
p.G368R
c.1102G>A
2 papers
NM_000441.2
p.G368R
c.1102G>C
2 papers
NM_000441.2
p.G368*
c.1102G>T
36 papers
NM_000441.2
p.K369E
c.1105A>G
3 papers
NM_000441.2
p.K369*
c.1105A>T
1 paper
NM_000441.2
p.V367A
c.1100T>C
1 paper
NM_000441.2
p.V370L
c.1108G>C
1 paper
NM_000441.2
p.V370L
c.1108G>T
1 paper
NM_000441.2
p.V370E
c.1109T>A
2 papers
NM_000441.2
p.V365_S366insT
c.1093_1097ins3
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