Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F130_G131insFs

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.F130_G131insFs
c.390_391insC
Surrounding Variants
1 paper
NM_000441.2
p.F130L
c.390T>A
1 paper
NM_000441.2
p.F130L
c.390T>G
3 papers
NM_000441.2
p.G131R
c.391G>A
3 papers
NM_000441.2
p.G131R
c.391G>C
6 papers
NM_000441.2
p.G131V
c.392G>T
1 paper
NM_000441.2
p.F130L
c.388T>C
1 paper
NM_000441.2
p.F130fs
c.388_389fs
1 paper
NM_000441.2
p.F130fs
c.388_389fs
1 paper
NM_000441.2
p.G131_T132insFs
c.393_394insG
1 paper
NM_000441.2
p.I129M
c.387C>G
2 papers
NM_000441.2
p.F130_S133delFs
c.388_397del10
1 paper
NM_000441.2
p.I129N
c.386T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."