Varaico: Literature-Extracted Genetic Variants

Gene:CEP41
Variant:p.H218R

CEP41

69 papers

RefSeq Summary

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localiz...

Pfam Domains

Rhodaneseaa 160–260UCSCRhodanese-like domain

Gene Aliases

HGNC Name

centrosomal protein 41

HGNC Previous Symbol

TSGA14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018718.3
p.H218R
c.653A>G
Surrounding Variants
2 papers
NM_018718.3
p.I222V
c.664A>G
1 paper
NM_018718.3
p.A236T
c.706G>A
3 papers
NM_018718.3
p.C240G
c.718T>G
3 papers
NM_018718.3
p.R242H
c.725G>A
1 paper
NM_018718.3
p.G252R
c.754G>C
1 paper
NM_018718.3
p.G252R
c.754G>A
1 paper
NM_018718.3
p.G253Splc
c.758-1G>T
1 paper
NM_018718.3
p.G264R
c.790G>C
1 paper
NM_018718.3
p.G264R
c.790G>A
1 paper
NM_018718.3
p.A277D
c.830C>A
1 paper
NM_018718.3
p.P280S
c.838C>T
1 paper
NM_018718.3
p.A283V
c.848C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."