Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L240P

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.L240P
c.719T>C
Surrounding Variants
1 paper
NM_000441.2
p.L240_S243delFs
c.720_729del10
1 paper
NM_000441.2
p.L240V
c.718C>G
2 papers
NM_000441.2
p.L240F
c.718C>T
1 paper
NM_000441.2
p.N241S
c.722A>G
80 papers
NM_000441.2
p.V239D
c.716T>A
1 paper
NM_000441.2
p.V242I
c.724G>A
2 papers
NM_000441.2
p.V242delFs
c.726delT
1 paper
NM_000441.2
p.V242A
c.725T>C
1 paper
NM_000441.2
p.I238S
c.713T>G
1 paper
NM_000441.2
p.I238fs
c.712_713fs
1 paper
NM_000441.2
p.I238delFs
c.712delA
1 paper
NM_000441.2
p.K237insFs
c.709_710insC
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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."