Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y556C

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
32 papers
NM_000441.2
p.Y556C
c.1667A>G
Surrounding Variants
5 papers
NM_000441.2
p.Y556*
c.1668T>A
10 papers
NM_000441.2
p.Y556H
c.1666T>C
4 papers
NM_000441.2
p.Y556*
c.1668T>G
4 papers
NM_000441.2
p.G557D
c.1670G>A
3 papers
NM_000441.2
p.G557V
c.1670G>T
1 paper
NM_000441.2
p.F555C
c.1664T>G
1 paper
NM_000441.2
p.N558H
c.1672A>C
2 papers
NM_000441.2
p.I554M
c.1662T>G
4 papers
NM_000441.2
p.N558S
c.1673A>G
19 papers
NM_000441.2
p.N558I
c.1673A>T
1 paper
NM_000441.2
p.I554N
c.1661T>A
2 papers
NM_000441.2
p.I554V
c.1660A>G
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