Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S344R

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.S344R
c.1032C>G
Surrounding Variants
1 paper
NM_000441.2
p.S344R
c.1032C>A
2 papers
NM_000441.2
p.S344N
c.1031G>A
1 paper
NM_000441.2
p.L345V
c.1033T>G
1 paper
NM_000441.2
p.S344R
c.1030A>C
1 paper
NM_000441.2
p.L345*
c.1034T>A
2 papers
NM_000441.2
p.L345F
c.1035G>C
1 paper
NM_000441.2
p.L345F
c.1035G>T
1 paper
NM_000441.2
p.F346delFs
c.1037delT
1 paper
NM_000441.2
p.F346_F354del9
c.1036_1061del27
1 paper
NM_000441.2
p.F346fs
c.1036_1037fs
2 papers
NM_000441.2
p.V343L
c.1027G>C
1 paper
NM_000441.2
p.F346S
c.1037T>C
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