Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L40P

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.L40P
c.119T>C
Surrounding Variants
2 papers
NM_000441.2
p.L40delFs
c.119delT
1 paper
NM_000441.2
p.L40L
c.120G>A
1 paper
NM_000441.2
p.Q41delFs
c.122delA
1 paper
NM_000441.2
p.E42_K52del11
c.124_155del33
1 paper
NM_000441.2
p.Q41_C53del0
c.122_157del36
1 paper
NM_000441.2
p.Q41_L46del0
c.121_138del18
1 paper
NM_000441.2
p.Q41R
c.122A>G
1 paper
NM_000441.2
p.Q41_T45del0
c.123_134del12
1 paper
NM_000441.2
p.R39H
c.116G>A
1 paper
NM_000441.2
p.R39_Q41delins
c.116_122delinsC
1 paper
NM_000441.2
p.Q41H
c.123G>C
2 papers
NM_000441.2
p.E42K
c.124G>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."