Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G222D

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
2 papers
NM_000441.2
p.G222D
c.665G>A
Surrounding Variants
6 papers
NM_000441.2
p.G222A
c.665G>C
19 papers
NM_000441.2
p.G222V
c.665G>T
4 papers
NM_000441.2
p.G222S
c.664G>A
1 paper
NM_000441.2
p.G222insFs
c.664_665insG
1 paper
NM_000441.2
p.F223fs
c.667_668fs
1 paper
NM_000441.2
p.G222_A227del0
c.664_681del18
10 papers
NM_000441.2
p.F223S
c.668T>C
1 paper
NM_000441.2
p.T224P
c.670A>C
1 paper
NM_000441.2
p.T224A
c.670A>G
1 paper
NM_000441.2
p.G221insFs
c.662_663insG
1 paper
NM_000441.2
p.T224I
c.671C>T
3 papers
NM_000441.2
p.V220A
c.659T>C
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