Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V328A

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.V328A
c.983T>C
Surrounding Variants
4 papers
NM_000441.2
p.V328G
c.983T>G
1 paper
NM_000441.2
p.V328_R333delFs
c.982_998del17
1 paper
NM_000441.2
p.K329T
c.986A>C
2 papers
NM_000441.2
p.I327T
c.980T>C
1 paper
NM_000441.2
p.I327L
c.979A>C
1 paper
NM_000441.2
p.K329K
c.987A>G
1 paper
NM_000441.2
p.G326S
c.976G>A
1 paper
NM_000441.2
p.A325D
c.974C>A
2 papers
NM_000441.2
p.A325_G326Fs
c.974_977delinsTTAAATTAFs
1 paper
NM_000441.2
p.I331N
c.992T>A
1 paper
NM_000441.2
p.A325P
c.973G>C
1 paper
NM_000441.2
p.A325insFs
c.973_974ins4
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