Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R79delFs

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
124 papers
NM_000441.2
p.R79delFs
c.235delC
Surrounding Variants
11 papers
NM_000441.2
p.Y78C
c.233A>G
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
8 papers
NM_000441.2
p.Y78H
c.232T>C
1 paper
NM_000441.2
p.K77N
c.231A>C
1 paper
NM_000441.2
p.K77N
c.231A>T
30 papers
NM_000441.2
p.R79*
c.235C>T
1 paper
NM_000441.2
p.R79_E82delFs
c.236_246del11
23 papers
NM_000441.2
p.K77I
c.230A>T
4 papers
NM_000441.2
p.R79Q
c.236G>A
2 papers
NM_000441.2
p.R79P
c.236G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."