Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S408P

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.S408P
c.1222T>C
Surrounding Variants
2 papers
NM_000441.2
p.S408A
c.1222T>G
1 paper
NM_000441.2
p.S408Y
c.1223C>A
20 papers
NM_000441.2
p.S408F
c.1223C>T
1 paper
NM_000441.2
p.S408S
c.1224C>T
2 papers
NM_000441.2
p.L407fs
c.1219_1220fs
31 papers
NM_000441.2
p.R409C
c.1225C>T
1 paper
NM_000441.2
p.L407F
c.1219C>T
1 paper
NM_000441.2
p.L407delFs
c.1220delT
211 papers
NM_000441.2
p.R409H
c.1226G>A
14 papers
NM_000441.2
p.R409P
c.1226G>C
7 papers
NM_000441.2
p.R409L
c.1226G>T
1 paper
NM_000441.2
p.A406A
c.1218T>A
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