Varaico: Literature-Extracted Genetic Variants

Gene:CEP126
Variant:p.Q766*

CEP126

61 papers

Pfam Domains

K1377aa 105–1081UCSCSusceptibility to monomelic amyotrophy

Gene Aliases

HGNC Name

centrosomal protein 126

HGNC Previous Symbol

KIAA1377

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020802.4
p.Q766*
c.2296C>T
Surrounding Variants
1 paper
NM_020802.4
p.K745Q
c.2233A>C
1 paper
NM_020802.4
p.P737P
c.2211T>A
1 paper
NM_020802.4
p.G795R
c.2383G>A
1 paper
NM_020802.4
p.G795R
c.2383G>C
1 paper
NM_020802.4
p.V824I
c.2470G>A
1 paper
NM_020802.4
p.G703R
c.2107G>A
1 paper
NM_020802.4
p.G703R
c.2107G>C
1 paper
NM_020802.4
p.S837F
c.2510C>T
1 paper
NM_020802.4
p.I694F
c.2080A>T
1 paper
NM_020802.4
p.F838L
c.2512T>C
1 paper
NM_020802.4
p.F838L
c.2514T>A
1 paper
NM_020802.4
p.F838L
c.2514T>G
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