Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L117fs

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.L117fs
c.349_350fs
Surrounding Variants
35 papers
NM_000441.2
p.L117F
c.349C>T
1 paper
NM_000441.2
p.L117R
c.350T>G
1 paper
NM_000441.2
p.L117insFs
c.349_350insC
19 papers
NM_000441.2
p.L117delFs
c.349delC
2 papers
NM_000441.2
p.G116D
c.347G>A
6 papers
NM_000441.2
p.G116V
c.347G>T
5 papers
NM_000441.2
p.G116S
c.346G>A
1 paper
NM_000441.2
p.Y118H
c.352T>C
1 paper
NM_000441.2
p.Y118F
c.353A>T
1 paper
NM_000441.2
p.G116insFs
c.346dupG
1 paper
NM_000441.2
p.G116_Y118del0
c.346_354del9
3 papers
NM_000441.2
p.Y115D
c.343T>G
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