Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L236P

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
149 papers
NM_000441.2
p.L236P
c.707T>C
Surrounding Variants
1 paper
NM_000441.2
p.K237delFs
c.710delA
15 papers
NM_000441.2
p.L236V
c.706C>G
1 paper
NM_000441.2
p.K237insFs
c.709_710insC
1 paper
NM_000441.2
p.L236_N246del11
c.706_737del33
7 papers
NM_000441.2
p.Q235R
c.704A>G
1 paper
NM_000441.2
p.Q235L
c.704A>T
3 papers
NM_000441.2
p.Q235*
c.703C>T
1 paper
NM_000441.2
p.I238delFs
c.712delA
1 paper
NM_000441.2
p.I238fs
c.712_713fs
1 paper
NM_000441.2
p.S234L
c.701C>T
1 paper
NM_000441.2
p.I238S
c.713T>G
80 papers
NM_000441.2
p.V239D
c.716T>A
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."