Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L108I

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.L108I
c.322C>A
Surrounding Variants
1 paper
NM_000441.2
p.L108fs
c.322_323fs
13 papers
NM_000441.2
p.L108delFs
c.322delC
1 paper
NM_000441.2
p.L108P
c.323T>C
1 paper
NM_000441.2
p.L107V
c.319C>G
1 paper
NM_000441.2
p.L107_A120del14
c.319_359del42
3 papers
NM_000441.2
p.A109delFs
c.327delT
14 papers
NM_000441.2
p.A106D
c.317C>A
2 papers
NM_000441.2
p.A106V
c.317C>T
2 papers
NM_000441.2
p.A110T
c.328G>A
1 paper
NM_000441.2
p.A110S
c.328G>T
1 paper
NM_000441.2
p.A106delFs
c.318delC
1 paper
NM_000441.2
p.A110fs
c.328_329fs
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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."