Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G205D

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.G205D
c.614G>A
Surrounding Variants
17 papers
NM_000441.2
p.G204V
c.611G>T
1 paper
NM_000441.2
p.L206*
c.617T>A
1 paper
NM_000441.2
p.L206F
c.618G>C
1 paper
NM_000441.2
p.L206F
c.618G>T
1 paper
NM_000441.2
p.Q207K
c.619C>A
1 paper
NM_000441.2
p.F203Y
c.608T>A
8 papers
NM_000441.2
p.F203S
c.608T>C
1 paper
NM_000441.2
p.Q207Q
c.621G>A
1 paper
NM_000441.2
p.Q207H
c.621G>C
1 paper
NM_000441.2
p.Q207H
c.621G>T
1 paper
NM_000441.2
p.I202L
c.604A>C
1 paper
NM_000441.2
p.I202V
c.604A>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."