Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L720F

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
2 papers
NM_000441.2
p.L720F
c.2160G>T
Surrounding Variants
2 papers
NM_000441.2
p.L720F
c.2160G>C
1 paper
NM_000441.2
p.T721K
c.2162C>A
124 papers
NM_000441.2
p.T721M
c.2162C>T
1 paper
NM_000441.2
p.L720_L729del10
c.2158_2186del30
1 paper
NM_000441.2
p.V722insFs
c.2164_2165ins4
1 paper
NM_000441.2
p.V722G
c.2165T>G
1 paper
NM_000441.2
p.F719fs
c.2155_2156fs
1 paper
NM_000441.2
p.F718L
c.2154C>A
1 paper
NM_000441.2
p.F718L
c.2154C>G
25 papers
NM_000441.2
p.H723D
c.2167C>G
7 papers
NM_000441.2
p.H723Y
c.2167C>T
7 papers
NM_000441.2
p.F718S
c.2153T>C
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