Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E37E

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.E37E
c.111G>A
Surrounding Variants
1 paper
NM_000441.2
p.E37G
c.110A>G
1 paper
NM_000441.2
p.R38_L46del0
c.112_138del27
1 paper
NM_000441.2
p.R38R
c.112C>A
2 papers
NM_000441.2
p.R38delFs
c.113delG
41 papers
NM_000441.2
p.E37K
c.109G>A
1 paper
NM_000441.2
p.R38Q
c.113G>A
1 paper
NM_000441.2
p.E37Q
c.109G>C
31 papers
NM_000441.2
p.E37*
c.109G>T
1 paper
NM_000441.2
p.R38L
c.113G>T
1 paper
NM_000441.2
p.R38delins
c.113delinsTCTTATT
1 paper
NM_000441.2
p.H36Q
c.108C>A
2 papers
NM_000441.2
p.E37insFs
c.109dupG
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