Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T67T

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.T67T
c.201T>G
Surrounding Variants
1 paper
NM_000441.2
p.T67T
c.201T>C
13 papers
NM_000441.2
p.T67S
c.200C>G
1 paper
NM_000441.2
p.T67P
c.199A>C
12 papers
NM_000441.2
p.T67S
c.199A>T
1 paper
NM_000441.2
p.L68H
c.203T>A
12 papers
NM_000441.2
p.L68P
c.203T>C
1 paper
NM_000441.2
p.V69L
c.205G>C
1 paper
NM_000441.2
p.L65L
c.195A>T
1 paper
NM_000441.2
p.K66_T67del2
c.196_200del6
1 paper
NM_000441.2
p.V69V
c.207G>C
3 papers
NM_000441.2
p.P70delFs
c.208delC
2 papers
NM_000441.2
p.P70T
c.208C>A
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