Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R79P

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
2 papers
NM_000441.2
p.R79P
c.236G>C
Surrounding Variants
4 papers
NM_000441.2
p.R79Q
c.236G>A
1 paper
NM_000441.2
p.R79L
c.236G>T
1 paper
NM_000441.2
p.R79R
c.237A>G
30 papers
NM_000441.2
p.R79*
c.235C>T
1 paper
NM_000441.2
p.R79_E82delFs
c.236_246del11
1 paper
NM_000441.2
p.Y78*
c.234C>A
1 paper
NM_000441.2
p.Y78*
c.234C>G
1 paper
NM_000441.2
p.Y78Y
c.234C>T
1 paper
NM_000441.2
p.V80I
c.238G>A
1 paper
NM_000441.2
p.V80insFs
c.239dupT
11 papers
NM_000441.2
p.Y78C
c.233A>G
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."