Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.M349I

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.M349I
c.1047G>T
Surrounding Variants
1 paper
NM_000441.2
p.M349I
c.1047G>A
1 paper
NM_000441.2
p.M349I
c.1047G>C
2 papers
NM_000441.2
p.L350L
c.1048C>T
1 paper
NM_000441.2
p.E348G
c.1043A>G
1 paper
NM_000441.2
p.A351D
c.1052C>A
1 paper
NM_000441.2
p.A351G
c.1052C>G
1 paper
NM_000441.2
p.S347L
c.1040C>T
1 paper
NM_000441.2
p.A352T
c.1054G>A
1 paper
NM_000441.2
p.F346S
c.1037T>C
1 paper
NM_000441.2
p.S353A
c.1057T>G
1 paper
NM_000441.2
p.F346fs
c.1036_1037fs
1 paper
NM_000441.2
p.S353S
c.1059A>T
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