Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D697Splc

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.D697Splc
c.2090-1G>A
Surrounding Variants
2 papers
NM_000441.2
p.D697A
c.2090A>C
1 paper
NM_000441.2
p.D697G
c.2090A>G
2 papers
NM_000441.2
p.V699M
c.2095G>A
1 paper
NM_000441.2
p.I700T
c.2099T>C
2 papers
NM_000441.2
p.I700M
c.2100A>G
1 paper
NM_000441.2
p.E701G
c.2102A>G
1 paper
NM_000441.2
p.K702fs
c.2104_2105fs
1 paper
NM_000441.2
p.K702E
c.2104A>G
2 papers
NM_000441.2
p.K702fs
c.2104_2105fs
1 paper
NM_000441.2
p.K702insFs
c.2105_2106ins5
9 papers
NM_000441.2
p.K702delFs
c.2106delG
1 paper
NM_000441.2
p.K702N
c.2106G>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."