Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V97L

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.V97L
c.289G>T
Surrounding Variants
1 paper
NM_000441.2
p.V97L
c.289G>C
6 papers
NM_000441.2
p.V97E
c.290T>A
1 paper
NM_000441.2
p.V97A
c.290T>C
1 paper
NM_000441.2
p.V97G
c.290T>G
3 papers
NM_000441.2
p.V97_A98insFs
c.291_292insA
1 paper
NM_000441.2
p.A98T
c.292G>A
2 papers
NM_000441.2
p.G95G
c.285G>C
1 paper
NM_000441.2
p.G95E
c.284G>A
2 papers
NM_000441.2
p.G95A
c.284G>C
1 paper
NM_000441.2
p.T99_L100insT
c.295_299ins3
7 papers
NM_000441.2
p.G95R
c.283G>A
4 papers
NM_000441.2
p.G95R
c.283G>C
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