Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S395fs

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.S395fs
c.1183_1184fs
Surrounding Variants
1 paper
NM_000441.2
p.S395_G396insFs
c.1184_1187dup4
1 paper
NM_000441.2
p.S395_G396insFs
c.1183_1186dup4
9 papers
NM_000441.2
p.G396E
c.1187G>A
1 paper
NM_000441.2
p.I393V
c.1177A>G
1 paper
NM_000441.2
p.I393F
c.1177A>T
17 papers
NM_000441.2
p.F394_S395del1
c.1181_1183delTCT
1 paper
NM_000441.2
p.F397L
c.1189T>C
1 paper
NM_000441.2
p.N392T
c.1175A>C
12 papers
NM_000441.2
p.N392S
c.1175A>G
2 papers
NM_000441.2
p.N392D
c.1174A>G
171 papers
NM_000441.2
p.N392Y
c.1174A>T
1 paper
NM_000441.2
p.N392_T405delFs
c.1175_1214del40
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."