Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T717P

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
2 papers
NM_000441.2
p.T717P
c.2149A>C
Surrounding Variants
1 paper
NM_000441.2
p.T717R
c.2150C>G
3 papers
NM_000441.2
p.D716G
c.2147A>G
2 papers
NM_000441.2
p.D716N
c.2146G>A
1 paper
NM_000441.2
p.F718L
c.2152T>C
2 papers
NM_000441.2
p.F718V
c.2152T>G
20 papers
NM_000441.2
p.K715N
c.2145G>C
23 papers
NM_000441.2
p.K715N
c.2145G>T
7 papers
NM_000441.2
p.F718S
c.2153T>C
1 paper
NM_000441.2
p.K715R
c.2144A>G
1 paper
NM_000441.2
p.F718L
c.2154C>A
1 paper
NM_000441.2
p.F718L
c.2154C>G
1 paper
NM_000441.2
p.F719fs
c.2155_2156fs
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."