Varaico: Literature-Extracted Genetic Variants

Gene:CEP44
Variant:p.S253L

CEP44

24 papers

Pfam Domains

CEP44aa 5–130UCSCCentrosomal spindle body, CEP44

Gene Aliases

HGNC Name

centrosomal protein 44

HGNC Previous Symbol

KIAA1712

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001040157.3
p.S253L
c.758C>T
Surrounding Variants
1 paper
NM_001040157.3
p.R257M
c.770G>T
1 paper
NM_001040157.3
p.M265delFs
c.793delA
1 paper
NM_001040157.3
p.N274Y
c.820A>T
1 paper
NM_001040157.3
p.L279R
c.836T>G
1 paper
NM_001040157.3
p.L285V
c.853C>G
1 paper
NM_001040157.3
p.L292fs
c.874_875fs
1 paper
NM_001040157.3
p.L292delFs
c.875_876delTG
1 paper
NM_001040157.3
p.V216I
c.646G>A
1 paper
NM_001040157.3
p.I186V
c.556A>G
1 paper
NM_001040157.3
p.G147S
c.439G>A
1 paper
NM_001040157.3
p.K119Q
c.355A>C
1 paper
NM_001040157.3
p.V116L
c.346G>C
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