Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N382K

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
7 papers
NM_000441.2
p.N382K
c.1146C>A
Surrounding Variants
7 papers
NM_000441.2
p.N382K
c.1146C>G
6 papers
NM_000441.2
p.N382delFs
c.1146delC
1 paper
NM_000441.2
p.Q383K
c.1147C>A
5 papers
NM_000441.2
p.Q383E
c.1147C>G
1 paper
NM_000441.2
p.Q383fs
c.1147_1148fs
2 papers
NM_000441.2
p.Q383P
c.1148A>C
2 papers
NM_000441.2
p.Q383H
c.1149G>C
2 papers
NM_000441.2
p.Q383H
c.1149G>T
11 papers
NM_000441.2
p.Q383_E384Splc
c.1149+1G>A
1 paper
NM_000441.2
p.Q383_E384Splc
c.1149+1G>T
23 papers
NM_000441.2
p.Q383_E384Splc
c.1149+3A>G
5 papers
NM_000441.2
p.D380N
c.1138G>A
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