Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G5G

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
4 papers
NM_000441.2
p.G5G
c.15C>A
Surrounding Variants
2 papers
NM_000441.2
p.G5G
c.15C>T
1 paper
NM_000441.2
p.G6S
c.16G>A
10 papers
NM_000441.2
p.G6V
c.17G>T
1 paper
NM_000441.2
p.P4_G5delins
c.12_13delinsAT
1 paper
NM_000441.2
p.G6G
c.18C>T
1 paper
NM_000441.2
p.P4L
c.11C>T
1 paper
NM_000441.2
p.R7K
c.20G>A
10 papers
NM_000441.2
p.A3A
c.9G>A
1 paper
NM_000441.2
p.R7R
c.21G>A
1 paper
NM_000441.2
p.P4insFs
c.11dupC
1 paper
NM_000441.2
p.R7delins
c.21delinsT
1 paper
NM_000441.2
p.P4_S19del16
c.10_56del48
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