Varaico: Literature-Extracted Genetic Variants

Gene:GON7
Variant:p.A76V

GON7

11 papers

Pfam Domains

DUF4611aa 3–98UCSCDomain of unknown function (DUF4611)

Gene Aliases

HGNC Name

GON7 subunit of KEOPS complex

HGNC Previous Symbol

C14orf142

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032490.5
p.A76V
c.227C>T
Surrounding Variants
1 paper
NM_032490.5
p.A76T
c.226G>A
1 paper
NM_032490.5
p.E77E
c.231A>G
2 papers
NM_032490.5
p.E79K
c.235G>A
1 paper
NM_032490.5
p.E46D
c.138A>T
1 paper
NM_032490.5
p.E46D
c.138A>C
1 paper
NM_032490.5
p.P24T
c.70C>A
1 paper
NM_032490.5
p.G12A
c.35G>C
1 paper
NM_032490.5
p.Y7*
c.21C>G
1 paper
NM_032490.5
p.Y7*
c.21C>A
1 paper
NM_032490.5
p.Y7insFs
c.19dupT
1 paper
NM_032490.5
p.Y7fs
c.19_20fs
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