Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G663R

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
4 papers
NM_000441.2
p.G663R
c.1987G>A
Surrounding Variants
4 papers
NM_000441.2
p.G663R
c.1987G>C
2 papers
NM_000441.2
p.G663E
c.1988G>A
15 papers
NM_000441.2
p.C662Y
c.1985G>A
4 papers
NM_000441.2
p.A664T
c.1990G>A
1 paper
NM_000441.2
p.A664S
c.1990G>T
1 paper
NM_000441.2
p.C662_G663insG
c.1984_1988ins3
20 papers
NM_000441.2
p.D661E
c.1983C>A
18 papers
NM_000441.2
p.D661E
c.1983C>G
25 papers
NM_000441.2
p.A664V
c.1991C>T
2 papers
NM_000441.2
p.D661G
c.1982A>G
1 paper
NM_000441.2
p.D661_S666Fs
c.1982_1996delinsGGFs
3 papers
NM_000441.2
p.I665V
c.1993A>G
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."