Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E303A

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
2 papers
NM_000441.2
p.E303A
c.908A>C
Surrounding Variants
1 paper
NM_000441.2
p.E303D
c.909A>C
1 paper
NM_000441.2
p.E303D
c.909A>T
1 paper
NM_000441.2
p.E303K
c.907G>A
19 papers
NM_000441.2
p.E303Q
c.907G>C
4 papers
NM_000441.2
p.V304E
c.911T>A
1 paper
NM_000441.2
p.I302T
c.905T>C
2 papers
NM_000441.2
p.I305fs
c.913_914fs
7 papers
NM_000441.2
p.P301L
c.902C>T
2 papers
NM_000441.2
p.I305T
c.914T>C
1 paper
NM_000441.2
p.P301Fs
c.901delinsAACCCTFs
1 paper
NM_000441.2
p.P301S
c.901C>T
47 papers
NM_000441.2
p.I305_V306insFs
c.915_916insG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."