Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I435V

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
2 papers
NM_000441.2
p.I435V
c.1303A>G
Surrounding Variants
2 papers
NM_000441.2
p.A434A
c.1302C>A
5 papers
NM_000441.2
p.A434D
c.1301C>A
1 paper
NM_000441.2
p.L436_L438del0
c.1308_1313del6
11 papers
NM_000441.2
p.A434T
c.1300G>A
2 papers
NM_000441.2
p.I433I
c.1299C>T
2 papers
NM_000441.2
p.A434_K440del7
c.1300_1319del21
1 paper
NM_000441.2
p.I433S
c.1298T>G
2 papers
NM_000441.2
p.I433_A434insFs
c.1299_1300insC
1 paper
NM_000441.2
p.A437T
c.1309G>A
1 paper
NM_000441.2
p.A437D
c.1310C>A
1 paper
NM_000441.2
p.A437V
c.1310C>T
1 paper
NM_000441.2
p.M432R
c.1295T>G
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