Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y20H

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
5 papers
NM_000441.2
p.Y20H
c.58T>C
Surrounding Variants
1 paper
NM_000441.2
p.Y20_M21insFs
c.60_61ins4
1 paper
NM_000441.2
p.Y20insFs
c.58_59insC
1 paper
NM_000441.2
p.S19R
c.57C>A
1 paper
NM_000441.2
p.S19R
c.57C>G
1 paper
NM_000441.2
p.S19S
c.57C>T
1 paper
NM_000441.2
p.S19T
c.56G>C
1 paper
NM_000441.2
p.S19fs
c.55_56fs
1 paper
NM_000441.2
p.S19R
c.55A>C
4 papers
NM_000441.2
p.M21V
c.61A>G
1 paper
NM_000441.2
p.S19G
c.55A>G
2 papers
NM_000441.2
p.C18*
c.54C>A
2 papers
NM_000441.2
p.S19delFs
c.55delA
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