Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y255Y

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.Y255Y
c.765T>C
Surrounding Variants
1 paper
NM_000441.2
p.Y255C
c.764A>G
3 papers
NM_000441.2
p.Y255_T256Splc
c.765+1G>A
1 paper
NM_000441.2
p.Y255_T256Splc
c.765+2T>C
1 paper
NM_000441.2
p.Y255_T256ins4
c.763_767ins12
3 papers
NM_000441.2
p.Y255_T256Splc
c.765+3A>C
7 papers
NM_000441.2
p.Y255_T256Splc
c.765+3A>T
3 papers
NM_000441.2
p.Y255_T256Splc
c.765+4A>C
2 papers
NM_000441.2
p.Y255_T256Splc
c.765+4A>G
1 paper
NM_000441.2
p.I254N
c.761T>A
3 papers
NM_000441.2
p.I254V
c.760A>G
1 paper
NM_000441.2
p.Y255_T256Splc
c.765+5G>A
1 paper
NM_000441.2
p.I254insFs
c.760_761insA
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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."