Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I726insFs

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.I726insFs
c.2177dupT
Surrounding Variants
2 papers
NM_000441.2
p.I726V
c.2176A>G
1 paper
NM_000441.2
p.I726T
c.2177T>C
1 paper
NM_000441.2
p.I726_L727insFs
c.2178_2179ins4
2 papers
NM_000441.2
p.A725insFs
c.2174_2175ins4
2 papers
NM_000441.2
p.L727fs
c.2179_2180fs
4 papers
NM_000441.2
p.L727F
c.2179C>T
4 papers
NM_000441.2
p.L727fs
c.2179_2180fs
1 paper
NM_000441.2
p.A725T
c.2173G>A
5 papers
NM_000441.2
p.A725P
c.2173G>C
12 papers
NM_000441.2
p.A725_I726insFs
c.2174_2177dup4
2 papers
NM_000441.2
p.L727H
c.2180T>A
19 papers
NM_000441.2
p.D724G
c.2171A>G
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