Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P123S

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
31 papers
NM_000441.2
p.P123S
c.367C>T
Surrounding Variants
9 papers
NM_000441.2
p.P123H
c.368C>A
1 paper
NM_000441.2
p.F122L
c.366C>A
1 paper
NM_000441.2
p.F122L
c.366C>G
1 paper
NM_000441.2
p.I124V
c.370A>G
2 papers
NM_000441.2
p.I124fs
c.370_371fs
1 paper
NM_000441.2
p.F122L
c.364T>C
2 papers
NM_000441.2
p.F122fs
c.364_365fs
1 paper
NM_000441.2
p.I124N
c.371T>A
1 paper
NM_000441.2
p.F121S
c.362T>C
12 papers
NM_000441.2
p.F122insFs
c.365_366insT
3 papers
NM_000441.2
p.F122delFs
c.365delT
1 paper
NM_000441.2
p.T126_I129del4
c.376_386del12
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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."