Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
3 papers
NM_000441.2
p.M1I
c.3G>C
1 paper
NM_000441.2
p.M1_A2insFs
c.3_4ins4
1 paper
NM_000441.2
p.M1I
c.3G>T
1 paper
NM_000441.2
p.A2_R7delFs
c.4_19del16
1 paper
NM_000441.2
p.A2ins3
c.4_5ins9
1 paper
NM_000441.2
p.M1K
c.2T>A
32 papers
NM_000441.2
p.M1T
c.2T>C
6 papers
NM_000441.2
p.M1R
c.2T>G
1 paper
NM_000441.2
p.A2insFs
c.4_5insG
1 paper
NM_000441.2
p.M1insFs
c.1_2insC
2 papers
NM_000441.2
p.M1insFs
c.2dupT
1 paper
NM_000441.2
p.M1insFs
c.2_3ins20
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