Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.K537insFs

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.K537insFs
c.1609_1610insC
Surrounding Variants
2 papers
NM_000441.2
p.Y536C
c.1607A>G
1 paper
NM_000441.2
p.N535K
c.1605T>A
1 paper
NM_000441.2
p.N538K
c.1614C>A
6 papers
NM_000441.2
p.N538N
c.1614C>T
53 papers
NM_000441.2
p.N538_I539Splc
c.1614+1G>A
9 papers
NM_000441.2
p.N538_I539Splc
c.1614+1G>C
2 papers
NM_000441.2
p.N538_I539Splc
c.1614+1G>T
1 paper
NM_000441.2
p.K534N
c.1602G>C
1 paper
NM_000441.2
p.K534N
c.1602G>T
5 papers
NM_000441.2
p.N538_I539Splc
c.1614+5G>A
1 paper
NM_000441.2
p.N538_I539Splc
c.1614+5G>C
4 papers
NM_000441.2
p.N538_I539Splc
c.1614+7A>G
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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."