Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.W74C

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.W74C
c.222G>C
Surrounding Variants
5 papers
NM_000441.2
p.W74*
c.222G>A
3 papers
NM_000441.2
p.W74C
c.222G>T
1 paper
NM_000441.2
p.L75_P76ins4
c.223_227ins12
1 paper
NM_000441.2
p.L75V
c.223C>G
2 papers
NM_000441.2
p.L75F
c.223C>T
2 papers
NM_000441.2
p.W74*
c.221G>A
1 paper
NM_000441.2
p.L75H
c.224T>A
1 paper
NM_000441.2
p.P76delFs
c.228delC
12 papers
NM_000441.2
p.L75L
c.225C>G
1 paper
NM_000441.2
p.P76_R79del4
c.226_236del12
1 paper
NM_000441.2
p.E73D
c.219G>C
1 paper
NM_000441.2
p.E73G
c.218A>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."