Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P14P

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.P14P
c.42C>A
Surrounding Variants
2 papers
NM_000441.2
p.E15insFs
c.43_44insG
1 paper
NM_000441.2
p.P14P
c.42C>G
1 paper
NM_000441.2
p.P14P
c.42C>T
1 paper
NM_000441.2
p.P14R
c.41C>G
2 papers
NM_000441.2
p.P14_C18delFs
c.42_52del11
1 paper
NM_000441.2
p.E15*
c.43G>T
1 paper
NM_000441.2
p.E15fs
c.43_44fs
1 paper
NM_000441.2
p.E15_M21delFs
c.44_62del19
1 paper
NM_000441.2
p.L13L
c.39C>A
1 paper
NM_000441.2
p.E15E
c.45G>A
1 paper
NM_000441.2
p.Y16H
c.46T>C
2 papers
NM_000441.2
p.P14delFs
c.42delC
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