Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A312V

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
2 papers
NM_000441.2
p.A312V
c.935C>T
Surrounding Variants
6 papers
NM_000441.2
p.I313_G326del14
c.937_977del42
1 paper
NM_000441.2
p.A312T
c.934G>A
1 paper
NM_000441.2
p.I313V
c.937A>G
1 paper
NM_000441.2
p.S314_Y315del2
c.940_944del6
1 paper
NM_000441.2
p.T311delFs
c.932delC
1 paper
NM_000441.2
p.S314_K329del16
c.940_986del48
1 paper
NM_000441.2
p.T311_K321del11
c.931_962del33
6 papers
NM_000441.2
p.S314*
c.941C>A
4 papers
NM_000441.2
p.S314*
c.941C>G
3 papers
NM_000441.2
p.S314L
c.941C>T
2 papers
NM_000441.2
p.A310V
c.929C>T
1 paper
NM_000441.2
p.S314S
c.942A>G
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