Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I524L

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.I524L
c.1570A>C
Surrounding Variants
2 papers
NM_000441.2
p.S523fs
c.1567_1568fs
1 paper
NM_000441.2
p.P525R
c.1574C>G
6 papers
NM_000441.2
p.P525L
c.1574C>T
1 paper
NM_000441.2
p.G522A
c.1565G>C
1 paper
NM_000441.2
p.S526N
c.1577G>A
19 papers
NM_000441.2
p.T527P
c.1579A>C
3 papers
NM_000441.2
p.T527A
c.1579A>G
1 paper
NM_000441.2
p.T527R
c.1580C>G
1 paper
NM_000441.2
p.G520insFs
c.1558_1559ins4
1 paper
NM_000441.2
p.D528_I529insFs
c.1584_1585insC
169 papers
NM_000441.2
p.N519D
c.1555A>G
1 paper
NM_000441.2
p.I529V
c.1585A>G
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