Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P4insFs

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.P4insFs
c.11dupC
Surrounding Variants
10 papers
NM_000441.2
p.A3A
c.9G>A
1 paper
NM_000441.2
p.P4_S19del16
c.10_56del48
1 paper
NM_000441.2
p.A3V
c.8C>T
1 paper
NM_000441.2
p.P4L
c.11C>T
1 paper
NM_000441.2
p.A3T
c.7G>A
3 papers
NM_000441.2
p.A2_A3insFs
c.6_7insT
2 papers
NM_000441.2
p.A2delins
c.5delinsGAGG
1 paper
NM_000441.2
p.A2V
c.5C>T
1 paper
NM_000441.2
p.P4_G5delins
c.12_13delinsAT
1 paper
NM_000441.2
p.A2ins3
c.4_5ins9
4 papers
NM_000441.2
p.G5G
c.15C>A
2 papers
NM_000441.2
p.G5G
c.15C>T
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."