Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L703V

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
11 papers
NM_000441.2
p.L703V
c.2107C>G
Surrounding Variants
1 paper
NM_000441.2
p.K702N
c.2106G>C
1 paper
NM_000441.2
p.K702N
c.2106G>T
5 papers
NM_000441.2
p.L703P
c.2108T>C
1 paper
NM_000441.2
p.K702insFs
c.2105_2106ins5
9 papers
NM_000441.2
p.K702delFs
c.2106delG
1 paper
NM_000441.2
p.K702fs
c.2104_2105fs
1 paper
NM_000441.2
p.K702E
c.2104A>G
2 papers
NM_000441.2
p.K702fs
c.2104_2105fs
5 papers
NM_000441.2
p.E704K
c.2110G>A
2 papers
NM_000441.2
p.E704Q
c.2110G>C
2 papers
NM_000441.2
p.E704fs
c.2110_2111fs
8 papers
NM_000441.2
p.E704insFs
c.2111_2112ins5
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