Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L192P

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.L192P
c.575T>C
Surrounding Variants
1 paper
NM_000441.2
p.L192L
c.576G>A
26 papers
NM_000441.2
p.T193I
c.578C>T
1 paper
NM_000441.2
p.A191V
c.572C>T
5 papers
NM_000441.2
p.L192delFs
c.574delC
1 paper
NM_000441.2
p.T193_L194insFs
c.579_580ins4
3 papers
NM_000441.2
p.L194L
c.580C>T
1 paper
NM_000441.2
p.L194Q
c.581T>A
1 paper
NM_000441.2
p.S190C
c.568A>T
1 paper
NM_000441.2
p.A189G
c.566C>G
1 paper
NM_000441.2
p.L195P
c.584T>C
1 paper
NM_000441.2
p.A189T
c.565G>A
12 papers
NM_000441.2
p.A189S
c.565G>T
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