Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V220A

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.V220A
c.659T>C
Surrounding Variants
1 paper
NM_000441.2
p.V220F
c.658G>T
1 paper
NM_000441.2
p.G221insFs
c.662_663insG
1 paper
NM_000441.2
p.G222_A227del0
c.664_681del18
1 paper
NM_000441.2
p.L219S
c.656T>C
1 paper
NM_000441.2
p.G222insFs
c.664_665insG
4 papers
NM_000441.2
p.G222S
c.664G>A
1 paper
NM_000441.2
p.L219insFs
c.655_656dupTT
1 paper
NM_000441.2
p.P218L
c.653C>T
1 paper
NM_000441.2
p.L219_V220del0
c.655_660del6
2 papers
NM_000441.2
p.G222D
c.665G>A
6 papers
NM_000441.2
p.G222A
c.665G>C
19 papers
NM_000441.2
p.G222V
c.665G>T
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."