Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y375H

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.Y375H
c.1123T>C
Surrounding Variants
1 paper
NM_000441.2
p.Y375S
c.1124A>C
9 papers
NM_000441.2
p.Y375C
c.1124A>G
1 paper
NM_000441.2
p.K374R
c.1121A>G
1 paper
NM_000441.2
p.D376Y
c.1126G>T
1 paper
NM_000441.2
p.D376A
c.1127A>C
1 paper
NM_000441.2
p.T373A
c.1117A>G
2 papers
NM_000441.2
p.T378del1
c.1132_1133delACC
38 papers
NM_000441.2
p.A372V
c.1115C>T
2 papers
NM_000441.2
p.T378A
c.1132A>G
1 paper
NM_000441.2
p.A372T
c.1114G>A
1 paper
NM_000441.2
p.A372S
c.1114G>T
1 paper
NM_000441.2
p.T378I
c.1133C>T
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