Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E540K

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.E540K
c.1618G>A
Surrounding Variants
1 paper
NM_000441.2
p.E540fs
c.1618_1619fs
1 paper
NM_000441.2
p.E540delFs
c.1618delG
2 papers
NM_000441.2
p.I539T
c.1616T>C
5 papers
NM_000441.2
p.I539V
c.1615A>G
14 papers
NM_000441.2
p.N538_I539Splc
c.1615-1G>A
3 papers
NM_000441.2
p.N538_I539Splc
c.1615-1G>C
1 paper
NM_000441.2
p.N538_I539Splc
c.1615-1G>T
20 papers
NM_000441.2
p.N538_I539Splc
c.1615-2A>G
1 paper
NM_000441.2
p.E541E
c.1623A>G
1 paper
NM_000441.2
p.P542T
c.1624C>A
1 paper
NM_000441.2
p.P542S
c.1624C>T
7 papers
NM_000441.2
p.P542R
c.1625C>G
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