Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S8L

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
6 papers
NM_000441.2
p.S8L
c.23C>T
Surrounding Variants
5 papers
NM_000441.2
p.S8*
c.23C>A
1 paper
NM_000441.2
p.S8P
c.22T>C
1 paper
NM_000441.2
p.S8A
c.22T>G
1 paper
NM_000441.2
p.S8insFs
c.23dupC
2 papers
NM_000441.2
p.E9K
c.25G>A
1 paper
NM_000441.2
p.R7R
c.21G>A
1 paper
NM_000441.2
p.E9Q
c.25G>C
1 paper
NM_000441.2
p.R7delins
c.21delinsT
1 paper
NM_000441.2
p.R7K
c.20G>A
3 papers
NM_000441.2
p.P10T
c.28C>A
1 paper
NM_000441.2
p.G6G
c.18C>T
1 paper
NM_000441.2
p.P10insFs
c.29_30insA
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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."