Varaico: Literature-Extracted Genetic Variants

Gene:CEP295NL
Variant:p.E183V

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.E183V
c.548A>T
Surrounding Variants
1 paper
NM_001243540.2
p.G185C
c.553G>T
1 paper
NM_001243540.2
p.R195Q
c.584G>A
1 paper
NM_001243540.2
p.E202K
c.604G>A
1 paper
NM_001243540.2
p.K224N
c.672G>T
1 paper
NM_001243540.2
p.K224N
c.672G>C
1 paper
NM_001243540.2
p.G128insFs
c.383dupG
1 paper
NM_001243540.2
p.R243W
c.727C>T
1 paper
NM_001243540.2
p.A248T
c.742G>A
1 paper
NM_001243540.2
p.I263M
c.789C>G
1 paper
NM_001243540.2
p.Q280R
c.839A>G
1 paper
NM_001243540.2
p.A285T
c.853G>A
1 paper
NM_001243540.2
p.E302*
c.904G>T
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