Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S86R

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.S86R
c.258T>G
Surrounding Variants
1 paper
NM_000441.2
p.S86R
c.258T>A
1 paper
NM_000441.2
p.S86S
c.258T>C
1 paper
NM_000441.2
p.S86N
c.257G>A
1 paper
NM_000441.2
p.D87N
c.259G>A
19 papers
NM_000441.2
p.D87Y
c.259G>T
1 paper
NM_000441.2
p.S86R
c.256A>C
2 papers
NM_000441.2
p.D87G
c.260A>G
1 paper
NM_000441.2
p.S86G
c.256A>G
1 paper
NM_000441.2
p.S86_D87del1
c.257_259delGTG
1 paper
NM_000441.2
p.D87E
c.261C>A
1 paper
NM_000441.2
p.D87E
c.261C>G
1 paper
NM_000441.2
p.D87D
c.261C>T
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