Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G139R

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
2 papers
NM_000441.2
p.G139R
c.415G>C
Surrounding Variants
1 paper
NM_000441.2
p.G139R
c.415G>A
3 papers
NM_000441.2
p.G139Splc
c.415+1G>A
12 papers
NM_000441.2
p.G139A
c.416G>C
14 papers
NM_000441.2
p.G139V
c.416G>T
1 paper
NM_000441.2
p.V138V
c.414T>G
1 paper
NM_000441.2
p.V138_G139insFs
c.414_415insA
5 papers
NM_000441.2
p.V138D
c.413T>A
12 papers
NM_000441.2
p.G139Splc
c.415+2T>C
1 paper
NM_000441.2
p.V138I
c.412G>A
9 papers
NM_000441.2
p.V138L
c.412G>C
86 papers
NM_000441.2
p.V138F
c.412G>T
11 papers
NM_000441.2
p.V138delFs
c.414delT
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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."