Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y27N

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
3 papers
NM_000441.2
p.Y27N
c.79T>A
Surrounding Variants
2 papers
NM_000441.2
p.Y27H
c.79T>C
1 paper
NM_000441.2
p.Y27D
c.79T>G
1 paper
NM_000441.2
p.Y27_S28Fs
c.79_82delinsAGAFs
2 papers
NM_000441.2
p.Y27C
c.80A>G
1 paper
NM_000441.2
p.V26V
c.78C>A
1 paper
NM_000441.2
p.V26V
c.78C>G
2 papers
NM_000441.2
p.Y27*
c.81C>A
2 papers
NM_000441.2
p.Y27*
c.81C>G
1 paper
NM_000441.2
p.Y27Y
c.81C>T
1 paper
NM_000441.2
p.V26A
c.77T>C
25 papers
NM_000441.2
p.S28R
c.82A>C
7 papers
NM_000441.2
p.S28G
c.82A>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."