Varaico: Literature-Extracted Genetic Variants

Gene:CEP19
Variant:p.E91E

CEP19

21 papers

RefSeq Summary

The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked ...

Pfam Domains

CEP19aa 2–121UCSCCEP19-like protein
CEP19aa 6–156UCSCCEP19-like protein

Gene Aliases

HGNC Name

centrosomal protein 19

HGNC Previous Symbol

C3orf34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032898.5
p.E91E
c.273A>G
Surrounding Variants
1 paper
NM_032898.5
p.E91Q
c.271G>C
2 papers
NM_032898.5
p.R78*
c.232C>T
1 paper
NM_032898.5
p.V65insFs
c.194_195insA
2 papers
NM_032898.5
p.Y61insFs
c.182dupA
1 paper
NM_032898.5
p.R57*
c.169C>T
1 paper
NM_032898.5
p.L150P
c.449T>C
1 paper
NM_032898.5
p.E24*
c.70G>T
1 paper
NM_032898.5
p.G9W
c.25G>T
1 paper
NM_032898.5
p.M1_M2insFs
c.3_4ins4
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