Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E414Q

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.E414Q
c.1240G>C
Surrounding Variants
9 papers
NM_000441.2
p.E414K
c.1240G>A
1 paper
NM_000441.2
p.E414_S415delins
c.1240_1243delinsAAAG
1 paper
NM_000441.2
p.Q413H
c.1239G>C
1 paper
NM_000441.2
p.Q413H
c.1239G>T
1 paper
NM_000441.2
p.E414_S415delins
c.1240_1243delinsGAGA
14 papers
NM_000441.2
p.Q413P
c.1238A>C
31 papers
NM_000441.2
p.Q413R
c.1238A>G
1 paper
NM_000441.2
p.E414D
c.1242G>T
7 papers
NM_000441.2
p.S415R
c.1243A>C
6 papers
NM_000441.2
p.S415G
c.1243A>G
1 paper
NM_000441.2
p.Q413*
c.1237C>T
1 paper
NM_000441.2
p.Q413delFs
c.1238delA
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