Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F161del1

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.F161del1
c.481_483delTTT
Surrounding Variants
5 papers
NM_000441.2
p.F161I
c.481T>A
1 paper
NM_000441.2
p.H160delFs
c.479delA
1 paper
NM_000441.2
p.F161_S164del0
c.483_491del9
1 paper
NM_000441.2
p.L162_V163insCA
c.484_488ins6
3 papers
NM_000441.2
p.E159K
c.475G>A
1 paper
NM_000441.2
p.E159Q
c.475G>C
1 paper
NM_000441.2
p.L162_V163insFs
c.486_487insT
1 paper
NM_000441.2
p.D158V
c.473A>T
7 papers
NM_000441.2
p.V163I
c.487G>A
7 papers
NM_000441.2
p.V163L
c.487G>C
4 papers
NM_000441.2
p.V163L
c.487G>T
1 paper
NM_000441.2
p.D158N
c.472G>A
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