Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G91G

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.G91G
c.273A>G
Surrounding Variants
1 paper
NM_000441.2
p.G91G
c.273A>T
1 paper
NM_000441.2
p.V92I
c.274G>A
1 paper
NM_000441.2
p.G91V
c.272G>T
1 paper
NM_000441.2
p.V92F
c.274G>T
2 papers
NM_000441.2
p.S90S
c.270G>A
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
1 paper
NM_000441.2
p.S93fs
c.277_278fs
1 paper
NM_000441.2
p.S90*
c.269C>A
2 papers
NM_000441.2
p.S90insFs
c.269_270insT
56 papers
NM_000441.2
p.S90L
c.269C>T
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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."