Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A274G

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.A274G
c.821C>G
Surrounding Variants
1 paper
NM_000441.2
p.A274V
c.821C>T
2 papers
NM_000441.2
p.G275R
c.823G>A
1 paper
NM_000441.2
p.G275R
c.823G>C
1 paper
NM_000441.2
p.G275fs
c.823_824fs
1 paper
NM_000441.2
p.T273S
c.818C>G
3 papers
NM_000441.2
p.T273I
c.818C>T
1 paper
NM_000441.2
p.T273S
c.817A>T
1 paper
NM_000441.2
p.L276V
c.826T>G
1 paper
NM_000441.2
p.L276F
c.828G>C
1 paper
NM_000441.2
p.L276F
c.828G>T
15 papers
NM_000441.2
p.D271G
c.812A>G
11 papers
NM_000441.2
p.D271H
c.811G>C
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