Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q33_Q34insFs

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.Q33_Q34insFs
c.99_100insT
Surrounding Variants
1 paper
NM_000441.2
p.Q33H
c.99G>C
1 paper
NM_000441.2
p.Q33H
c.99G>T
2 papers
NM_000441.2
p.Q33R
c.98A>G
2 papers
NM_000441.2
p.Q34K
c.100C>A
5 papers
NM_000441.2
p.Q34_Q35insG
c.100_104ins3
1 paper
NM_000441.2
p.Q34E
c.100C>G
6 papers
NM_000441.2
p.Q34*
c.100C>T
2 papers
NM_000441.2
p.Q34Q
c.102A>G
1 paper
NM_000441.2
p.Q35_L46del0
c.103_138del36
1 paper
NM_000441.2
p.F32L
c.96C>A
1 paper
NM_000441.2
p.F32L
c.96C>G
1 paper
NM_000441.2
p.Q35*
c.103C>T
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