Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G493R

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.G493R
c.1477G>C
Surrounding Variants
1 paper
NM_000441.2
p.G493R
c.1477G>A
3 papers
NM_000441.2
p.G493W
c.1477G>T
1 paper
NM_000441.2
p.L492R
c.1475T>G
10 papers
NM_000441.2
p.I491T
c.1472T>C
2 papers
NM_000441.2
p.D495N
c.1483G>A
1 paper
NM_000441.2
p.I490T
c.1469T>C
1 paper
NM_000441.2
p.I490insFs
c.1470dupC
23 papers
NM_000441.2
p.I490L
c.1468A>C
2 papers
NM_000441.2
p.L496F
c.1486C>T
1 paper
NM_000441.2
p.I490insFs
c.1468_1469insAA
1 paper
NM_000441.2
p.L496R
c.1487T>G
1 paper
NM_000441.2
p.S489F
c.1466C>T
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