Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A574T

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
6 papers
NM_000441.2
p.A574T
c.1720G>A
Surrounding Variants
1 paper
NM_000441.2
p.A574V
c.1721C>T
1 paper
NM_000441.2
p.I575V
c.1723A>G
3 papers
NM_000441.2
p.D573H
c.1717G>C
13 papers
NM_000441.2
p.D573Y
c.1717G>T
13 papers
NM_000441.2
p.F572L
c.1716T>A
12 papers
NM_000441.2
p.F572L
c.1716T>G
1 paper
NM_000441.2
p.R576G
c.1726A>G
12 papers
NM_000441.2
p.F572L
c.1714T>C
3 papers
NM_000441.2
p.F572V
c.1714T>G
1 paper
NM_000441.2
p.F572_I575del0
c.1714_1725del12
1 paper
NM_000441.2
p.G571E
c.1712G>A
2 papers
NM_000441.2
p.V577I
c.1729G>A
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."