Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I136_S137delFs

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.I136_S137delFs
c.407_411del5
Surrounding Variants
1 paper
NM_000441.2
p.H135_I136insFs
c.405_406insC
16 papers
NM_000441.2
p.H135R
c.404A>G
1 paper
NM_000441.2
p.I136V
c.406A>G
4 papers
NM_000441.2
p.I136F
c.406A>T
1 paper
NM_000441.2
p.H135L
c.404A>T
4 papers
NM_000441.2
p.H135Y
c.403C>T
1 paper
NM_000441.2
p.I136N
c.407T>A
3 papers
NM_000441.2
p.I136I
c.408C>A
1 paper
NM_000441.2
p.R134I
c.401G>T
8 papers
NM_000441.2
p.S137P
c.409T>C
4 papers
NM_000441.2
p.R134G
c.400A>G
5 papers
NM_000441.2
p.S137L
c.410C>T
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