Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G102R

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
21 papers
NM_000441.2
p.G102R
c.304G>A
Surrounding Variants
17 papers
NM_000441.2
p.G102R
c.304G>C
2 papers
NM_000441.2
p.Q101P
c.302A>C
1 paper
NM_000441.2
p.Q101R
c.302A>G
1 paper
NM_000441.2
p.Q101L
c.302A>T
5 papers
NM_000441.2
p.G102Splc
c.304+2T>C
3 papers
NM_000441.2
p.G102Splc
c.304+2T>G
1 paper
NM_000441.2
p.Q101K
c.301C>A
2 papers
NM_000441.2
p.L100P
c.299T>C
13 papers
NM_000441.2
p.L100delFs
c.299_300delTG
1 paper
NM_000441.2
p.T99K
c.296C>A
7 papers
NM_000441.2
p.T99R
c.296C>G
5 papers
NM_000441.2
p.T99M
c.296C>T
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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."