Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4

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
1–12 of 2286 variants
476 papers
NM_000441.2
p.H723R
c.2168A>G
469 papers
NM_000441.2
p.V306_T307Splc
c.919-2A>G
279 papers
NM_000441.2
p.T410M
c.1229C>T
211 papers
NM_000441.2
p.R409H
c.1226G>A
171 papers
NM_000441.2
p.N392Y
c.1174A>T
171 papers
NM_000441.2
p.T416P
c.1246A>C
169 papers
NM_000441.2
p.N519D
c.1555A>G
157 papers
NM_000441.2
p.L676Q
c.2027T>A
149 papers
NM_000441.2
p.L236P
c.707T>C
149 papers
NM_000441.2
p.G334Splc
c.1001+1G>A
143 papers
NM_000441.2
p.V659L
c.1975G>C
124 papers
NM_000441.2
p.R79delFs
c.235delC
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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."