Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V678_I679Splc

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.V678_I679Splc
c.2034+1G>T
Surrounding Variants
3 papers
NM_000441.2
p.V678_I679Splc
c.2034+1G>A
1 paper
NM_000441.2
p.V678V
c.2034G>A
1 paper
NM_000441.2
p.V678G
c.2033T>G
1 paper
NM_000441.2
p.V678M
c.2032G>A
1 paper
NM_000441.2
p.R677Q
c.2030G>A
3 papers
NM_000441.2
p.R677P
c.2030G>C
5 papers
NM_000441.2
p.R677W
c.2029C>T
4 papers
NM_000441.2
p.R677fs
c.2029_2030fs
1 paper
NM_000441.2
p.L676_R677insFs
c.2028_2029insT
157 papers
NM_000441.2
p.L676Q
c.2027T>A
1 paper
NM_000441.2
p.L676R
c.2027T>G
3 papers
NM_000441.2
p.L676insFs
c.2027_2028insT
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