Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T94I

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
90 papers
NM_000441.2
p.T94I
c.281C>T
Surrounding Variants
1 paper
NM_000441.2
p.T94A
c.280A>G
7 papers
NM_000441.2
p.G95R
c.283G>A
4 papers
NM_000441.2
p.G95R
c.283G>C
19 papers
NM_000441.2
p.S93R
c.279T>A
14 papers
NM_000441.2
p.S93R
c.279T>G
3 papers
NM_000441.2
p.S93N
c.278G>A
1 paper
NM_000441.2
p.G95E
c.284G>A
2 papers
NM_000441.2
p.G95A
c.284G>C
20 papers
NM_000441.2
p.S93delFs
c.279delT
2 papers
NM_000441.2
p.S93fs
c.277_278fs
14 papers
NM_000441.2
p.S93R
c.277A>C
1 paper
NM_000441.2
p.S93G
c.277A>G
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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."