Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T174S

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.T174S
c.520A>T
Surrounding Variants
1 paper
NM_000441.2
p.T174S
c.521C>G
1 paper
NM_000441.2
p.T174I
c.521C>T
1 paper
NM_000441.2
p.M175V
c.523A>G
1 paper
NM_000441.2
p.N172S
c.515A>G
14 papers
NM_000441.2
p.I176_A191del16
c.526_572del48
1 paper
NM_000441.2
p.I176L
c.526A>T
1 paper
NM_000441.2
p.I176K
c.527T>A
2 papers
NM_000441.2
p.I176T
c.527T>C
1 paper
NM_000441.2
p.I176insFs
c.528dupA
1 paper
NM_000441.2
p.L171S
c.512T>C
1 paper
NM_000441.2
p.L171ins1
c.512_513insAAC
14 papers
NM_000441.2
p.L171insFs
c.512_513ins4
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