Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R43_K44del1

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.R43_K44del1
c.129_131delCAA
Surrounding Variants
2 papers
NM_000441.2
p.R43H
c.128G>A
6 papers
NM_000441.2
p.R43_K44insFs
c.129_130insC
1 paper
NM_000441.2
p.R43L
c.128G>T
3 papers
NM_000441.2
p.R43S
c.127C>A
1 paper
NM_000441.2
p.K44insFs
c.131dupA
1 paper
NM_000441.2
p.R43_K44insG
c.127_131ins3
1 paper
NM_000441.2
p.R43_K44insFs
c.129_130insT
1 paper
NM_000441.2
p.R43G
c.127C>G
1 paper
NM_000441.2
p.R43C
c.127C>T
1 paper
NM_000441.2
p.R43delFs
c.128delG
1 paper
NM_000441.2
p.R43_S49del0
c.128_145del18
1 paper
NM_000441.2
p.K44*
c.130A>T
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