Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P112S

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
21 papers
NM_000441.2
p.P112S
c.334C>T
Surrounding Variants
1 paper
NM_000441.2
p.P112A
c.334C>G
2 papers
NM_000441.2
p.P112_V113insFs
c.336_337insT
2 papers
NM_000441.2
p.P112_V113delFs
c.336_337delTG
1 paper
NM_000441.2
p.V113insFs
c.337_338insT
2 papers
NM_000441.2
p.V111F
c.331G>T
1 paper
NM_000441.2
p.V113delFs
c.338delT
1 paper
NM_000441.2
p.V113insFs
c.339dupC
1 paper
NM_000441.2
p.A110E
c.329C>A
5 papers
NM_000441.2
p.G114R
c.340G>A
2 papers
NM_000441.2
p.A110T
c.328G>A
5 papers
NM_000441.2
p.G114R
c.340G>C
1 paper
NM_000441.2
p.A110S
c.328G>T
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