Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T307A

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
14 papers
NM_000441.2
p.T307A
c.919A>G
Surrounding Variants
1 paper
NM_000441.2
p.T307fs
c.919_920fs
1 paper
NM_000441.2
p.T307_A312Fs
c.919_936delinsCCCCAFs
3 papers
NM_000441.2
p.T307K
c.920C>A
14 papers
NM_000441.2
p.T307M
c.920C>T
2 papers
NM_000441.2
p.V306_T307Splc
c.919-1G>A
2 papers
NM_000441.2
p.V306_T307Splc
c.919-2A>C
469 papers
NM_000441.2
p.V306_T307Splc
c.919-2A>G
3 papers
NM_000441.2
p.V306_T307Splc
c.919-2A>T
1 paper
NM_000441.2
p.I308_A310del3
c.922_929del9
2 papers
NM_000441.2
p.I308_A310delFs
c.923_929del7
2 papers
NM_000441.2
p.V306_T307Splc
c.919-3C>G
1 paper
NM_000441.2
p.I309T
c.926T>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."