Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S17_C18insFs

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.S17_C18insFs
c.51_52ins4
Surrounding Variants
1 paper
NM_000441.2
p.S17I
c.50G>T
1 paper
NM_000441.2
p.S17G
c.49A>G
1 paper
NM_000441.2
p.C18delFs
c.52delT
3 papers
NM_000441.2
p.S17_M21delins
c.51_63delinsA
1 paper
NM_000441.2
p.Y16Y
c.48C>T
1 paper
NM_000441.2
p.C18S
c.52T>A
1 paper
NM_000441.2
p.C18_Y20del0
c.53_58del6
3 papers
NM_000441.2
p.C18Y
c.53G>A
2 papers
NM_000441.2
p.C18*
c.54C>A
2 papers
NM_000441.2
p.S19delFs
c.55delA
1 paper
NM_000441.2
p.Y16H
c.46T>C
1 paper
NM_000441.2
p.S19fs
c.55_56fs
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