Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I199T

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
5 papers
NM_000441.2
p.I199T
c.596T>C
Surrounding Variants
1 paper
NM_000441.2
p.I199L
c.595A>T
1 paper
NM_000441.2
p.Q200R
c.599A>G
1 paper
NM_000441.2
p.I198T
c.593T>C
2 papers
NM_000441.2
p.Q200Q
c.600G>A
2 papers
NM_000441.2
p.Q200_L201Splc
c.600+1G>A
1 paper
NM_000441.2
p.Q200_L201Splc
c.600+1G>C
6 papers
NM_000441.2
p.Q200_L201Splc
c.600+1G>T
1 paper
NM_000441.2
p.G197E
c.590G>A
6 papers
NM_000441.2
p.Q200_L201Splc
c.600+2T>A
96 papers
NM_000441.2
p.G197R
c.589G>A
53 papers
NM_000441.2
p.G197R
c.589G>C
1 paper
NM_000441.2
p.G197_I198insFs
c.590_594dup5
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