Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.M103fs

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.M103fs
c.307_308fs
Surrounding Variants
1 paper
NM_000441.2
p.M103_A104del1
c.308_310delTGG
1 paper
NM_000441.2
p.M103T
c.308T>C
2 papers
NM_000441.2
p.M103I
c.309G>A
1 paper
NM_000441.2
p.G102A
c.305G>C
1 paper
NM_000441.2
p.M103I
c.309G>C
1 paper
NM_000441.2
p.M103I
c.309G>T
1 paper
NM_000441.2
p.A104_L108delFs
c.310_323del14
4 papers
NM_000441.2
p.A104T
c.310G>A
1 paper
NM_000441.2
p.G102Splc
c.305-1G>A
1 paper
NM_000441.2
p.A104fs
c.310_311fs
1 paper
NM_000441.2
p.A104S
c.310G>T
1 paper
NM_000441.2
p.A104_L107delFs
c.311_321del11
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