Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D380N

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
5 papers
NM_000441.2
p.D380N
c.1138G>A
Surrounding Variants
1 paper
NM_000441.2
p.I379insFs
c.1137dupC
1 paper
NM_000441.2
p.I379V
c.1135A>G
1 paper
NM_000441.2
p.T378I
c.1133C>T
2 papers
NM_000441.2
p.T378A
c.1132A>G
6 papers
NM_000441.2
p.N382delFs
c.1146delC
2 papers
NM_000441.2
p.T378del1
c.1132_1133delACC
7 papers
NM_000441.2
p.N382K
c.1146C>A
7 papers
NM_000441.2
p.N382K
c.1146C>G
1 paper
NM_000441.2
p.Q383K
c.1147C>A
5 papers
NM_000441.2
p.Q383E
c.1147C>G
1 paper
NM_000441.2
p.Q383fs
c.1147_1148fs
2 papers
NM_000441.2
p.Q383P
c.1148A>C
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."