Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E29G

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
6 papers
NM_000441.2
p.E29G
c.86A>G
Surrounding Variants
5 papers
NM_000441.2
p.E29K
c.85G>A
47 papers
NM_000441.2
p.E29Q
c.85G>C
7 papers
NM_000441.2
p.E29D
c.87G>C
4 papers
NM_000441.2
p.E29D
c.87G>T
2 papers
NM_000441.2
p.E29*
c.85G>T
31 papers
NM_000441.2
p.S28R
c.84C>A
25 papers
NM_000441.2
p.S28R
c.84C>G
1 paper
NM_000441.2
p.L30V
c.88C>G
2 papers
NM_000441.2
p.L30F
c.88C>T
1 paper
NM_000441.2
p.S28_E29insFs
c.84_85insC
2 papers
NM_000441.2
p.L30P
c.89T>C
1 paper
NM_000441.2
p.L30insFs
c.89_90ins5
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."