Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A156V

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.A156V
c.467C>T
Surrounding Variants
1 paper
NM_000441.2
p.A156T
c.466G>A
1 paper
NM_000441.2
p.A156P
c.466G>C
1 paper
NM_000441.2
p.A156S
c.466G>T
1 paper
NM_000441.2
p.P157S
c.469C>T
4 papers
NM_000441.2
p.M155V
c.463A>G
3 papers
NM_000441.2
p.P157P
c.471C>T
1 paper
NM_000441.2
p.D158N
c.472G>A
1 paper
NM_000441.2
p.D158V
c.473A>T
3 papers
NM_000441.2
p.E159K
c.475G>A
1 paper
NM_000441.2
p.L153L
c.459G>A
1 paper
NM_000441.2
p.E159Q
c.475G>C
1 paper
NM_000441.2
p.L153L
c.459G>T
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."