Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T416P

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
171 papers
NM_000441.2
p.T416P
c.1246A>C
Surrounding Variants
2 papers
NM_000441.2
p.T416A
c.1246A>G
7 papers
NM_000441.2
p.S415R
c.1245C>A
7 papers
NM_000441.2
p.S415R
c.1245C>G
1 paper
NM_000441.2
p.T416_G417del2
c.1246_1250del6
1 paper
NM_000441.2
p.T416_G418del3
c.1246_1253del9
1 paper
NM_000441.2
p.T416_K419del4
c.1246_1256del12
7 papers
NM_000441.2
p.S415R
c.1243A>C
6 papers
NM_000441.2
p.S415G
c.1243A>G
1 paper
NM_000441.2
p.E414D
c.1242G>T
9 papers
NM_000441.2
p.E414K
c.1240G>A
2 papers
NM_000441.2
p.G418R
c.1252G>A
2 papers
NM_000441.2
p.G418R
c.1252G>C
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