Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I665M

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.I665M
c.1995A>G
Surrounding Variants
1 paper
NM_000441.2
p.S666T
c.1996T>A
1 paper
NM_000441.2
p.S666P
c.1996T>C
3 papers
NM_000441.2
p.I665V
c.1993A>G
23 papers
NM_000441.2
p.S666F
c.1997C>T
25 papers
NM_000441.2
p.A664V
c.1991C>T
3 papers
NM_000441.2
p.F667L
c.1999T>C
4 papers
NM_000441.2
p.A664T
c.1990G>A
1 paper
NM_000441.2
p.A664S
c.1990G>T
20 papers
NM_000441.2
p.F667S
c.2000T>C
19 papers
NM_000441.2
p.F667C
c.2000T>G
2 papers
NM_000441.2
p.F667L
c.2001C>A
2 papers
NM_000441.2
p.F667L
c.2001C>G
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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."