Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S164C

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.S164C
c.491C>G
Surrounding Variants
2 papers
NM_000441.2
p.S165R
c.493A>C
1 paper
NM_000441.2
p.V163A
c.488T>C
2 papers
NM_000441.2
p.S165R
c.495C>A
2 papers
NM_000441.2
p.S165R
c.495C>G
5 papers
NM_000441.2
p.S166delFs
c.496delA
7 papers
NM_000441.2
p.V163I
c.487G>A
7 papers
NM_000441.2
p.V163L
c.487G>C
4 papers
NM_000441.2
p.V163L
c.487G>T
1 paper
NM_000441.2
p.S166G
c.496A>G
1 paper
NM_000441.2
p.L162_V163insFs
c.486_487insT
13 papers
NM_000441.2
p.S166N
c.497G>A
1 paper
NM_000441.2
p.S166T
c.497G>C
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."