Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T45T

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.T45T
c.135G>T
Surrounding Variants
1 paper
NM_000441.2
p.T45T
c.135G>A
1 paper
NM_000441.2
p.T45K
c.134C>A
1 paper
NM_000441.2
p.T45A
c.133A>G
1 paper
NM_000441.2
p.T45fs
c.133_134fs
1 paper
NM_000441.2
p.L46P
c.137T>C
1 paper
NM_000441.2
p.R47delFs
c.139_140delCG
1 paper
NM_000441.2
p.L46_A51del0
c.138_152del15
2 papers
NM_000441.2
p.K44N
c.132G>C
4 papers
NM_000441.2
p.R47insFs
c.139_140insC
2 papers
NM_000441.2
p.K44N
c.132G>T
1 paper
NM_000441.2
p.T45_L50del0
c.133_150del18
1 paper
NM_000441.2
p.K44*
c.130A>T
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