Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S427P

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.S427P
c.1279T>C
Surrounding Variants
1 paper
NM_000441.2
p.S427T
c.1279T>A
4 papers
NM_000441.2
p.A428_A429del1
c.1284_1286delTGC
2 papers
NM_000441.2
p.S427Y
c.1280C>A
2 papers
NM_000441.2
p.S427C
c.1280C>G
6 papers
NM_000441.2
p.I426N
c.1277T>A
2 papers
NM_000441.2
p.I426T
c.1277T>C
1 paper
NM_000441.2
p.I425I
c.1275C>A
1 paper
NM_000441.2
p.A428G
c.1283C>G
1 paper
NM_000441.2
p.A428V
c.1283C>T
9 papers
NM_000441.2
p.A429del1
c.1285_1286delGCG
1 paper
NM_000441.2
p.I425F
c.1273A>T
12 papers
NM_000441.2
p.A429E
c.1286C>A
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