Varaico: Literature-Extracted Genetic Variants

Gene:CEP295NL
Variant:p.M509T

CEP295NL

22 papers

Pfam Domains

CEP295NLaa 55–621UCSCCEP295 N-terminal-like protein

Gene Aliases

HGNC Name

CEP295 N-terminal like

HGNC Previous Symbol

KIAA1731NL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001243540.2
p.M509T
c.1526T>C
Surrounding Variants
1 paper
NM_001243540.2
p.S519L
c.1556C>T
1 paper
NM_001243540.2
p.A548T
c.1642G>A
1 paper
NM_001243540.2
p.Q416*
c.1246C>T
1 paper
NM_001243540.2
p.L607V
c.1819C>G
1 paper
NM_001243540.2
p.T389fs
c.1165_1166fs
1 paper
NM_001243540.2
p.T389S
c.1166C>G
1 paper
NM_001243540.2
p.T389S
c.1165A>T
1 paper
NM_001243540.2
p.Q338R
c.1013A>G
1 paper
NM_001243540.2
p.Q310H
c.930G>T
1 paper
NM_001243540.2
p.Q310H
c.930G>C
3 papers
NM_001243540.2
p.Q310*
c.928C>T
1 paper
NM_001243540.2
p.E302*
c.904G>T
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