Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V412I

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
6 papers
NM_000441.2
p.V412I
c.1234G>A
Surrounding Variants
4 papers
NM_000441.2
p.V412F
c.1234G>T
1 paper
NM_000441.2
p.V412A
c.1235T>C
1 paper
NM_000441.2
p.A411D
c.1232C>A
1 paper
NM_000441.2
p.A411G
c.1232C>G
1 paper
NM_000441.2
p.Q413*
c.1237C>T
1 paper
NM_000441.2
p.Q413delFs
c.1238delA
7 papers
NM_000441.2
p.A411T
c.1231G>A
11 papers
NM_000441.2
p.A411P
c.1231G>C
14 papers
NM_000441.2
p.Q413P
c.1238A>C
31 papers
NM_000441.2
p.Q413R
c.1238A>G
6 papers
NM_000441.2
p.T410K
c.1229C>A
3 papers
NM_000441.2
p.T410R
c.1229C>G
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