Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V358M

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.V358M
c.1072G>A
Surrounding Variants
1 paper
NM_000441.2
p.V358A
c.1073T>C
1 paper
NM_000441.2
p.V358_V359del1
c.1074_1076delGGT
3 papers
NM_000441.2
p.A357T
c.1069G>A
4 papers
NM_000441.2
p.V359E
c.1076T>A
1 paper
NM_000441.2
p.V359G
c.1076T>G
1 paper
NM_000441.2
p.I356T
c.1067T>C
1 paper
NM_000441.2
p.I356S
c.1067T>G
1 paper
NM_000441.2
p.I356V
c.1066A>G
47 papers
NM_000441.2
p.A360V
c.1079C>T
1 paper
NM_000441.2
p.S355P
c.1063T>C
27 papers
NM_000441.2
p.F354S
c.1061T>C
1 paper
NM_000441.2
p.S353S
c.1059A>T
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