Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.H723R

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
476 papers
NM_000441.2
p.H723R
c.2168A>G
Surrounding Variants
3 papers
NM_000441.2
p.H723P
c.2168A>C
25 papers
NM_000441.2
p.H723D
c.2167C>G
7 papers
NM_000441.2
p.H723Y
c.2167C>T
13 papers
NM_000441.2
p.D724N
c.2170G>A
19 papers
NM_000441.2
p.D724G
c.2171A>G
2 papers
NM_000441.2
p.D724V
c.2171A>T
1 paper
NM_000441.2
p.V722G
c.2165T>G
1 paper
NM_000441.2
p.V722insFs
c.2164_2165ins4
1 paper
NM_000441.2
p.A725T
c.2173G>A
5 papers
NM_000441.2
p.A725P
c.2173G>C
12 papers
NM_000441.2
p.A725_I726insFs
c.2174_2177dup4
1 paper
NM_000441.2
p.T721K
c.2162C>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."