Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.K321insFs

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.K321insFs
c.961_962insC
Surrounding Variants
1 paper
NM_000441.2
p.K321_S330delFs
c.961_989del29
1 paper
NM_000441.2
p.N322H
c.964A>C
6 papers
NM_000441.2
p.N322D
c.964A>G
4 papers
NM_000441.2
p.N322fs
c.964_965fs
13 papers
NM_000441.2
p.N322insFs
c.965_966insA
1 paper
NM_000441.2
p.N322delFs
c.965delA
1 paper
NM_000441.2
p.N322S
c.965A>G
1 paper
NM_000441.2
p.N322_Y323insFs
c.966_967insC
20 papers
NM_000441.2
p.N324Y
c.970A>T
3 papers
NM_000441.2
p.N324T
c.971A>C
1 paper
NM_000441.2
p.A317D
c.950C>A
2 papers
NM_000441.2
p.A317T
c.949G>A
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