Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L743*

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
5 papers
NM_000441.2
p.L743*
c.2228T>G
Surrounding Variants
8 papers
NM_000441.2
p.L743*
c.2228T>A
1 paper
NM_000441.2
p.L743S
c.2228T>C
1 paper
NM_000441.2
p.L743L
c.2229A>G
1 paper
NM_000441.2
p.E744K
c.2230G>A
2 papers
NM_000441.2
p.T745delFs
c.2233delA
1 paper
NM_000441.2
p.I742T
c.2225T>C
1 paper
NM_000441.2
p.T745K
c.2234C>A
3 papers
NM_000441.2
p.T745M
c.2234C>T
16 papers
NM_000441.2
p.G740V
c.2219G>T
5 papers
NM_000441.2
p.T745_I746Splc
c.2235+2T>A
5 papers
NM_000441.2
p.T745_I746Splc
c.2235+2T>C
15 papers
NM_000441.2
p.G740S
c.2218G>A
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