Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F229Y

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.F229Y
c.686T>A
Surrounding Variants
1 paper
NM_000441.2
p.F229_Q230insGC
c.685_689ins6
2 papers
NM_000441.2
p.Q230insFs
c.689_690insA
2 papers
NM_000441.2
p.A228D
c.683C>A
1 paper
NM_000441.2
p.A228S
c.682G>T
8 papers
NM_000441.2
p.V231M
c.691G>A
1 paper
NM_000441.2
p.V231L
c.691G>C
1 paper
NM_000441.2
p.V231L
c.691G>T
1 paper
NM_000441.2
p.A227A
c.681T>C
1 paper
NM_000441.2
p.A227G
c.680C>G
3 papers
NM_000441.2
p.V231E
c.692T>A
12 papers
NM_000441.2
p.A227P
c.679G>C
1 paper
NM_000441.2
p.A227delFs
c.680delC
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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."