Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N392Y

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
171 papers
NM_000441.2
p.N392Y
c.1174A>T
Surrounding Variants
2 papers
NM_000441.2
p.N392D
c.1174A>G
1 paper
NM_000441.2
p.N392_T405delFs
c.1175_1214del40
1 paper
NM_000441.2
p.N392T
c.1175A>C
12 papers
NM_000441.2
p.N392S
c.1175A>G
33 papers
NM_000441.2
p.S391R
c.1173C>A
27 papers
NM_000441.2
p.S391R
c.1173C>G
1 paper
NM_000441.2
p.S391S
c.1173C>T
14 papers
NM_000441.2
p.S391N
c.1172G>A
27 papers
NM_000441.2
p.S391R
c.1171A>C
1 paper
NM_000441.2
p.I393V
c.1177A>G
1 paper
NM_000441.2
p.I393F
c.1177A>T
17 papers
NM_000441.2
p.F394_S395del1
c.1181_1183delTCT
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