Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q446*

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
37 papers
NM_000441.2
p.Q446*
c.1336C>T
Surrounding Variants
1 paper
NM_000441.2
p.Q446P
c.1337A>C
47 papers
NM_000441.2
p.Q446R
c.1337A>G
1 paper
NM_000441.2
p.L445F
c.1335G>C
2 papers
NM_000441.2
p.L445_Q446insFs
c.1335_1336ins4
1 paper
NM_000441.2
p.L445F
c.1335G>T
11 papers
NM_000441.2
p.K447delFs
c.1340delA
120 papers
NM_000441.2
p.L445W
c.1334T>G
4 papers
NM_000441.2
p.L445insFs
c.1334_1335ins4
1 paper
NM_000441.2
p.K447fs
c.1339_1340fs
1 paper
NM_000441.2
p.K447E
c.1339A>G
3 papers
NM_000441.2
p.K447fs
c.1339_1340fs
1 paper
NM_000441.2
p.K447ins1
c.1340_1341insTCT
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