Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V64E

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.V64E
c.191T>A
Surrounding Variants
1 paper
NM_000441.2
p.V64G
c.191T>G
1 paper
NM_000441.2
p.V64M
c.190G>A
1 paper
NM_000441.2
p.L65delFs
c.193delC
1 paper
NM_000441.2
p.V64delFs
c.191delT
1 paper
NM_000441.2
p.G63D
c.188G>A
1 paper
NM_000441.2
p.G63A
c.188G>C
1 paper
NM_000441.2
p.L65Q
c.194T>A
1 paper
NM_000441.2
p.L65P
c.194T>C
1 paper
NM_000441.2
p.L65L
c.195A>T
1 paper
NM_000441.2
p.K66_T67del2
c.196_200del6
2 papers
NM_000441.2
p.G63S
c.187G>A
7 papers
NM_000441.2
p.G63C
c.187G>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."