Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.K419R

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.K419R
c.1256A>G
Surrounding Variants
12 papers
NM_000441.2
p.T420I
c.1259C>T
1 paper
NM_000441.2
p.G418E
c.1253G>A
2 papers
NM_000441.2
p.G418R
c.1252G>A
2 papers
NM_000441.2
p.G418R
c.1252G>C
7 papers
NM_000441.2
p.Q421K
c.1261C>A
1 paper
NM_000441.2
p.Q421E
c.1261C>G
36 papers
NM_000441.2
p.Q421P
c.1262A>C
13 papers
NM_000441.2
p.Q421R
c.1262A>G
10 papers
NM_000441.2
p.Q421L
c.1262A>T
8 papers
NM_000441.2
p.Q421_V422Splc
c.1263+1G>A
1 paper
NM_000441.2
p.Q421_V422Splc
c.1263+2T>C
171 papers
NM_000441.2
p.T416P
c.1246A>C
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