Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I529T

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.I529T
c.1586T>C
Surrounding Variants
37 papers
NM_000441.2
p.I529S
c.1586T>G
1 paper
NM_000441.2
p.I529V
c.1585A>G
2 papers
NM_000441.2
p.I529delFs
c.1586delT
1 paper
NM_000441.2
p.Y530N
c.1588T>A
37 papers
NM_000441.2
p.Y530H
c.1588T>C
1 paper
NM_000441.2
p.D528_I529insFs
c.1584_1585insC
13 papers
NM_000441.2
p.Y530S
c.1589A>C
2 papers
NM_000441.2
p.Y530*
c.1590C>A
3 papers
NM_000441.2
p.Y530*
c.1590C>G
1 paper
NM_000441.2
p.K531Q
c.1591A>C
1 paper
NM_000441.2
p.K531E
c.1591A>G
1 paper
NM_000441.2
p.K531T
c.1592A>C
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