Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D182insFs

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.D182insFs
c.544_545insA
Surrounding Variants
1 paper
NM_000441.2
p.R181S
c.543A>C
1 paper
NM_000441.2
p.R181S
c.543A>T
1 paper
NM_000441.2
p.D182V
c.545A>T
1 paper
NM_000441.2
p.R181K
c.542G>A
1 paper
NM_000441.2
p.R181T
c.542G>C
1 paper
NM_000441.2
p.A180D
c.539C>A
2 papers
NM_000441.2
p.A179T
c.535G>A
1 paper
NM_000441.2
p.R185K
c.554G>A
14 papers
NM_000441.2
p.R185T
c.554G>C
1 paper
NM_000441.2
p.T178I
c.533C>T
5 papers
NM_000441.2
p.T178P
c.532A>C
1 paper
NM_000441.2
p.V186I
c.556G>A
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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."