Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I300V

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.I300V
c.898A>G
Surrounding Variants
11 papers
NM_000441.2
p.I300L
c.898A>C
1 paper
NM_000441.2
p.I300S
c.899T>G
1 paper
NM_000441.2
p.P299L
c.896C>T
1 paper
NM_000441.2
p.P301Fs
c.901delinsAACCCTFs
1 paper
NM_000441.2
p.P299A
c.895C>G
1 paper
NM_000441.2
p.P299S
c.895C>T
1 paper
NM_000441.2
p.P301S
c.901C>T
7 papers
NM_000441.2
p.P301L
c.902C>T
12 papers
NM_000441.2
p.P299_I300del2
c.895_899del6
1 paper
NM_000441.2
p.V298I
c.892G>A
1 paper
NM_000441.2
p.I302T
c.905T>C
5 papers
NM_000441.2
p.P297Q
c.890C>A
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