Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V422G

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.V422G
c.1265T>G
Surrounding Variants
4 papers
NM_000441.2
p.V422D
c.1265T>A
2 papers
NM_000441.2
p.V422A
c.1265T>C
4 papers
NM_000441.2
p.V422I
c.1264G>A
2 papers
NM_000441.2
p.Q421_V422Splc
c.1264-1G>A
8 papers
NM_000441.2
p.Q421_V422Splc
c.1264-1G>C
1 paper
NM_000441.2
p.A423P
c.1267G>C
2 papers
NM_000441.2
p.A423delFs
c.1268delC
2 papers
NM_000441.2
p.Q421_V422Splc
c.1264-2A>G
1 paper
NM_000441.2
p.Q421_V422Splc
c.1264-3C>G
1 paper
NM_000441.2
p.G424R
c.1270G>C
13 papers
NM_000441.2
p.G424D
c.1271G>A
2 papers
NM_000441.2
p.Q421_V422Splc
c.1264-6T>G
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