Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S657R

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.S657R
c.1969A>C
Surrounding Variants
2 papers
NM_000441.2
p.S657C
c.1969A>T
21 papers
NM_000441.2
p.S657N
c.1970G>A
5 papers
NM_000441.2
p.S657I
c.1970G>T
1 paper
NM_000441.2
p.S657R
c.1971C>A
1 paper
NM_000441.2
p.S657R
c.1971C>G
1 paper
NM_000441.2
p.L658F
c.1972C>T
3 papers
NM_000441.2
p.I655N
c.1964T>A
1 paper
NM_000441.2
p.H656insFs
c.1966dupC
4 papers
NM_000441.2
p.I655V
c.1963A>G
143 papers
NM_000441.2
p.V659L
c.1975G>C
83 papers
NM_000441.2
p.V659L
c.1975G>T
1 paper
NM_000441.2
p.I655_L660del6
c.1963_1979del18
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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."