Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I363insFs

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.I363insFs
c.1087_1088insT
Surrounding Variants
5 papers
NM_000441.2
p.I363L
c.1087A>C
4 papers
NM_000441.2
p.I363V
c.1087A>G
1 paper
NM_000441.2
p.A362D
c.1085C>A
1 paper
NM_000441.2
p.A364G
c.1091C>G
1 paper
NM_000441.2
p.A364V
c.1091C>T
2 papers
NM_000441.2
p.V365_S366insT
c.1093_1097ins3
47 papers
NM_000441.2
p.A360V
c.1079C>T
4 papers
NM_000441.2
p.V359E
c.1076T>A
1 paper
NM_000441.2
p.V359G
c.1076T>G
1 paper
NM_000441.2
p.V367A
c.1100T>C
1 paper
NM_000441.2
p.V358A
c.1073T>C
2 papers
NM_000441.2
p.G368R
c.1102G>A
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