Varaico: Literature-Extracted Genetic Variants

Gene:CEP295NL
Variant:p.Q310*

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
3 papers
NM_001243540.2
p.Q310*
c.928C>T
Surrounding Variants
1 paper
NM_001243540.2
p.Q310H
c.930G>T
1 paper
NM_001243540.2
p.Q310H
c.930G>C
1 paper
NM_001243540.2
p.E302*
c.904G>T
1 paper
NM_001243540.2
p.A285T
c.853G>A
1 paper
NM_001243540.2
p.Q338R
c.1013A>G
1 paper
NM_001243540.2
p.Q280R
c.839A>G
1 paper
NM_001243540.2
p.I263M
c.789C>G
1 paper
NM_001243540.2
p.A248T
c.742G>A
1 paper
NM_001243540.2
p.R243W
c.727C>T
1 paper
NM_001243540.2
p.T389S
c.1165A>T
1 paper
NM_001243540.2
p.T389S
c.1166C>G
1 paper
NM_001243540.2
p.T389fs
c.1165_1166fs
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