Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E384G

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
77 papers
NM_000441.2
p.E384G
c.1151A>G
Surrounding Variants
6 papers
NM_000441.2
p.E384Q
c.1150G>C
2 papers
NM_000441.2
p.Q383_E384Splc
c.1150-1G>A
1 paper
NM_000441.2
p.Q383_E384Splc
c.1150-2A>T
1 paper
NM_000441.2
p.F385insFs
c.1155dupC
4 papers
NM_000441.2
p.I386V
c.1156A>G
1 paper
NM_000441.2
p.I386fs
c.1156_1157fs
1 paper
NM_000441.2
p.A387D
c.1160C>A
34 papers
NM_000441.2
p.A387V
c.1160C>T
1 paper
NM_000441.2
p.F388insFs
c.1164dupT
1 paper
NM_000441.2
p.Q383_E384Splc
c.1150-9C>T
9 papers
NM_000441.2
p.G389R
c.1165G>A
9 papers
NM_000441.2
p.G389R
c.1165G>C
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