Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S28_E29insFs

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.S28_E29insFs
c.84_85insC
Surrounding Variants
25 papers
NM_000441.2
p.S28R
c.82A>C
7 papers
NM_000441.2
p.S28G
c.82A>G
31 papers
NM_000441.2
p.S28R
c.84C>A
25 papers
NM_000441.2
p.S28R
c.84C>G
2 papers
NM_000441.2
p.Y27*
c.81C>A
2 papers
NM_000441.2
p.Y27*
c.81C>G
1 paper
NM_000441.2
p.Y27Y
c.81C>T
5 papers
NM_000441.2
p.E29K
c.85G>A
47 papers
NM_000441.2
p.E29Q
c.85G>C
2 papers
NM_000441.2
p.E29*
c.85G>T
6 papers
NM_000441.2
p.E29G
c.86A>G
2 papers
NM_000441.2
p.Y27C
c.80A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."