Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G334Splc

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
149 papers
NM_000441.2
p.G334Splc
c.1001+1G>A
Surrounding Variants
1 paper
NM_000441.2
p.G334Splc
c.1001+1G>C
1 paper
NM_000441.2
p.G334Splc
c.1001+1G>T
5 papers
NM_000441.2
p.G334E
c.1001G>A
3 papers
NM_000441.2
p.G334A
c.1001G>C
39 papers
NM_000441.2
p.G334V
c.1001G>T
1 paper
NM_000441.2
p.G334Splc
c.1001+2T>A
4 papers
NM_000441.2
p.G334W
c.1000G>T
9 papers
NM_000441.2
p.G334Splc
c.1001+4A>G
15 papers
NM_000441.2
p.G334Splc
c.1001+5G>C
6 papers
NM_000441.2
p.G334Splc
c.1001+5G>T
1 paper
NM_000441.2
p.P332A
c.994C>G
1 paper
NM_000441.2
p.I331N
c.992T>A
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