Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N248fs

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.N248fs
c.742_743fs
Surrounding Variants
1 paper
NM_000441.2
p.N248delFs
c.744delT
1 paper
NM_000441.2
p.N248K
c.744T>A
1 paper
NM_000441.2
p.N248K
c.744T>G
2 papers
NM_000441.2
p.G249R
c.745G>A
2 papers
NM_000441.2
p.G249R
c.745G>C
4 papers
NM_000441.2
p.N246K
c.738C>G
2 papers
NM_000441.2
p.G249E
c.746G>A
1 paper
NM_000441.2
p.N246T
c.737A>C
1 paper
NM_000441.2
p.N246I
c.737A>T
1 paper
NM_000441.2
p.N246fs
c.736_737fs
2 papers
NM_000441.2
p.N246H
c.736A>C
1 paper
NM_000441.2
p.N246Y
c.736A>T
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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."