Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A2delins

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
2 papers
NM_000441.2
p.A2delins
c.5delinsGAGG
Surrounding Variants
1 paper
NM_000441.2
p.A2V
c.5C>T
3 papers
NM_000441.2
p.A2_A3insFs
c.6_7insT
1 paper
NM_000441.2
p.A2ins3
c.4_5ins9
1 paper
NM_000441.2
p.M1I
c.3G>A
1 paper
NM_000441.2
p.A3T
c.7G>A
3 papers
NM_000441.2
p.M1I
c.3G>C
1 paper
NM_000441.2
p.M1_A2insFs
c.3_4ins4
1 paper
NM_000441.2
p.M1I
c.3G>T
1 paper
NM_000441.2
p.A2_R7delFs
c.4_19del16
1 paper
NM_000441.2
p.A3V
c.8C>T
1 paper
NM_000441.2
p.M1K
c.2T>A
32 papers
NM_000441.2
p.M1T
c.2T>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."