Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P341L

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.P341L
c.1022C>T
Surrounding Variants
1 paper
NM_000441.2
p.P341_P342insFs
c.1023_1024insC
2 papers
NM_000441.2
p.P341A
c.1021C>G
1 paper
NM_000441.2
p.P341S
c.1021C>T
1 paper
NM_000441.2
p.P342S
c.1024C>T
2 papers
NM_000441.2
p.P341insFs
c.1022_1023insC
3 papers
NM_000441.2
p.P341delFs
c.1022delC
1 paper
NM_000441.2
p.P342L
c.1025C>T
2 papers
NM_000441.2
p.V343L
c.1027G>C
1 paper
NM_000441.2
p.E339K
c.1015G>A
1 paper
NM_000441.2
p.S344R
c.1030A>C
2 papers
NM_000441.2
p.S344N
c.1031G>A
1 paper
NM_000441.2
p.S344R
c.1032C>A
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