Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G139E

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
12 papers
NM_000441.2
p.G139E
c.416G>A
Surrounding Variants
9 papers
NM_000441.2
p.G139A
c.416G>C
10 papers
NM_000441.2
p.G139V
c.416G>T
2 papers
NM_000441.2
p.G139fs
c.415_416fs
10 papers
NM_000441.2
p.G139Splc
c.416-1G>A
1 paper
NM_000441.2
p.G139delFs
c.416_417delGA
1 paper
NM_000441.2
p.G139_P140del1
c.416_418delGAC
1 paper
NM_000441.2
p.G139_P140delFs
c.416_419del4
1 paper
NM_000441.2
p.P140_F141insC
c.418_422ins3
9 papers
NM_000441.2
p.P140H
c.419C>A
4 papers
NM_000441.2
p.F141L
c.421T>C
7 papers
NM_000441.2
p.F141S
c.422T>C
4 papers
NM_000441.2
p.F141L
c.423T>A
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