Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y578H

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.Y578H
c.1732T>C
Surrounding Variants
2 papers
NM_000441.2
p.Y578_N579del1
c.1733_1735delATA
1 paper
NM_000441.2
p.Y578C
c.1733A>G
1 paper
NM_000441.2
p.Y578*
c.1734T>A
6 papers
NM_000441.2
p.V577A
c.1730T>C
2 papers
NM_000441.2
p.V577G
c.1730T>G
1 paper
NM_000441.2
p.N579_K580ins4
c.1735_1739ins12
2 papers
NM_000441.2
p.V577I
c.1729G>A
1 paper
NM_000441.2
p.K580delFs
c.1739delA
2 papers
NM_000441.2
p.K580delFs
c.1738_1739delAA
1 paper
NM_000441.2
p.R576G
c.1726A>G
1 paper
NM_000441.2
p.R581delFs
c.1741_1742delAG
1 paper
NM_000441.2
p.K580K
c.1740G>A
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