Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F397L

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.F397L
c.1189T>C
Surrounding Variants
9 papers
NM_000441.2
p.G396E
c.1187G>A
1 paper
NM_000441.2
p.F398_S399insC
c.1192_1196ins3
13 papers
NM_000441.2
p.S399P
c.1195T>C
1 paper
NM_000441.2
p.S395_G396insFs
c.1184_1187dup4
2 papers
NM_000441.2
p.S399fs
c.1195_1196fs
1 paper
NM_000441.2
p.S395fs
c.1183_1184fs
1 paper
NM_000441.2
p.S395_G396insFs
c.1183_1186dup4
2 papers
NM_000441.2
p.S399F
c.1196C>T
48 papers
NM_000441.2
p.C400delFs
c.1198delT
1 paper
NM_000441.2
p.S399_C400delFs
c.1197_1198delTT
3 papers
NM_000441.2
p.C400fs
c.1198_1199fs
16 papers
NM_000441.2
p.C400fs
c.1198_1199fs
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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."