Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D710D

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
3 papers
NM_000441.2
p.D710D
c.2130C>T
Surrounding Variants
1 paper
NM_000441.2
p.D711N
c.2131G>A
1 paper
NM_000441.2
p.D711Y
c.2131G>T
1 paper
NM_000441.2
p.D711G
c.2132A>G
2 papers
NM_000441.2
p.N712Y
c.2134A>T
1 paper
NM_000441.2
p.N712S
c.2135A>G
2 papers
NM_000441.2
p.N712I
c.2135A>T
5 papers
NM_000441.2
p.F709fs
c.2125_2126fs
1 paper
NM_000441.2
p.N712N
c.2136C>T
2 papers
NM_000441.2
p.I713delFs
c.2137delA
15 papers
NM_000441.2
p.F709delFs
c.2127delT
2 papers
NM_000441.2
p.I713V
c.2137A>G
2 papers
NM_000441.2
p.F708S
c.2123T>C
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