Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L72_E73insFs

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.L72_E73insFs
c.216_217insA
Surrounding Variants
6 papers
NM_000441.2
p.E73delFs
c.218delA
1 paper
NM_000441.2
p.L72*
c.215T>A
1 paper
NM_000441.2
p.E73G
c.218A>G
1 paper
NM_000441.2
p.I71I
c.213C>A
1 paper
NM_000441.2
p.I71M
c.213C>G
1 paper
NM_000441.2
p.E73D
c.219G>C
3 papers
NM_000441.2
p.I71N
c.212T>A
2 papers
NM_000441.2
p.I71T
c.212T>C
1 paper
NM_000441.2
p.I71V
c.211A>G
2 papers
NM_000441.2
p.W74*
c.221G>A
5 papers
NM_000441.2
p.W74*
c.222G>A
3 papers
NM_000441.2
p.W74C
c.222G>C
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