Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V285I

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
3 papers
NM_000441.2
p.V285I
c.853G>A
Surrounding Variants
1 paper
NM_000441.2
p.K286Q
c.856A>C
1 paper
NM_000441.2
p.K286E
c.856A>G
1 paper
NM_000441.2
p.A284T
c.850G>A
1 paper
NM_000441.2
p.A284S
c.850G>T
2 papers
NM_000441.2
p.K286R
c.857A>G
6 papers
NM_000441.2
p.M283I
c.849G>A
6 papers
NM_000441.2
p.M283I
c.849G>C
6 papers
NM_000441.2
p.M283I
c.849G>T
2 papers
NM_000441.2
p.M283V
c.847A>G
1 paper
NM_000441.2
p.E287Q
c.859G>C
1 paper
NM_000441.2
p.C282*
c.846T>A
9 papers
NM_000441.2
p.C282Y
c.845G>A
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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."