Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G672A

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
1 paper
NM_000441.2
p.G672A
c.2015G>C
Surrounding Variants
24 papers
NM_000441.2
p.G672E
c.2015G>A
1 paper
NM_000441.2
p.G672V
c.2015G>T
10 papers
NM_000441.2
p.G672R
c.2014G>A
6 papers
NM_000441.2
p.G672R
c.2014G>C
1 paper
NM_000441.2
p.V673M
c.2017G>A
1 paper
NM_000441.2
p.V673L
c.2017G>C
1 paper
NM_000441.2
p.V673L
c.2017G>T
1 paper
NM_000441.2
p.V673G
c.2018T>G
2 papers
NM_000441.2
p.R674G
c.2020A>G
15 papers
NM_000441.2
p.V670A
c.2009T>C
1 paper
NM_000441.2
p.V670I
c.2008G>A
1 paper
NM_000441.2
p.V670F
c.2008G>T
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