Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P25S

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.P25S
c.73C>T
Surrounding Variants
2 papers
NM_000441.2
p.P25T
c.73C>A
1 paper
NM_000441.2
p.P25A
c.73C>G
1 paper
NM_000441.2
p.P25_V26insFs
c.75_76ins4
1 paper
NM_000441.2
p.P25R
c.74C>G
2 papers
NM_000441.2
p.P25L
c.74C>T
22 papers
NM_000441.2
p.R24Q
c.71G>A
2 papers
NM_000441.2
p.P25P
c.75G>C
1 paper
NM_000441.2
p.V26insFs
c.76_77ins4
7 papers
NM_000441.2
p.R24L
c.71G>T
1 paper
NM_000441.2
p.P25P
c.75G>T
1 paper
NM_000441.2
p.V26_Y27delFs
c.76_79del4
6 papers
NM_000441.2
p.R24G
c.70C>G
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