Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.K77Q

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.K77Q
c.229A>C
Surrounding Variants
1 paper
NM_000441.2
p.K77insFs
c.229_230insGC
23 papers
NM_000441.2
p.K77I
c.230A>T
1 paper
NM_000441.2
p.P76P
c.228C>T
1 paper
NM_000441.2
p.K77N
c.231A>C
1 paper
NM_000441.2
p.K77N
c.231A>T
1 paper
NM_000441.2
p.P76H
c.227C>A
32 papers
NM_000441.2
p.P76L
c.227C>T
11 papers
NM_000441.2
p.P76S
c.226C>T
8 papers
NM_000441.2
p.Y78H
c.232T>C
11 papers
NM_000441.2
p.Y78C
c.233A>G
124 papers
NM_000441.2
p.R79delFs
c.235delC
12 papers
NM_000441.2
p.L75L
c.225C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."