Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S145G

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.S145G
c.433A>G
Surrounding Variants
2 papers
NM_000441.2
p.S145_M147delFs
c.434_440del7
1 paper
NM_000441.2
p.V144E
c.431T>A
2 papers
NM_000441.2
p.V144A
c.431T>C
1 paper
NM_000441.2
p.V144L
c.430G>C
1 paper
NM_000441.2
p.V144L
c.430G>T
1 paper
NM_000441.2
p.V144_S150delFs
c.431_450del20
1 paper
NM_000441.2
p.V143A
c.428T>C
1 paper
NM_000441.2
p.M147L
c.439A>C
81 papers
NM_000441.2
p.M147V
c.439A>G
1 paper
NM_000441.2
p.M147L
c.439A>T
3 papers
NM_000441.2
p.V143L
c.427G>C
3 papers
NM_000441.2
p.V143L
c.427G>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."