Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P142R

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
10 papers
NM_000441.2
p.P142R
c.425C>G
Surrounding Variants
6 papers
NM_000441.2
p.P142L
c.425C>T
1 paper
NM_000441.2
p.V143_M147del5
c.427_440del15
1 paper
NM_000441.2
p.P142A
c.424C>G
1 paper
NM_000441.2
p.P142S
c.424C>T
3 papers
NM_000441.2
p.V143L
c.427G>C
3 papers
NM_000441.2
p.V143L
c.427G>T
4 papers
NM_000441.2
p.F141L
c.423T>A
4 papers
NM_000441.2
p.F141L
c.423T>G
7 papers
NM_000441.2
p.F141S
c.422T>C
1 paper
NM_000441.2
p.V143A
c.428T>C
4 papers
NM_000441.2
p.F141L
c.421T>C
1 paper
NM_000441.2
p.V144L
c.430G>C
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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."