Varaico: Literature-Extracted Genetic Variants

Gene:CEP41
Variant:p.Q89E

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
2 papers
NM_018718.3
p.Q89E
c.265C>G
Surrounding Variants
1 paper
NM_018718.3
p.A85P
c.253G>C
1 paper
NM_018718.3
p.D93Splc
c.277+5T>G
1 paper
NM_018718.3
p.D93Splc
c.277+5T>A
1 paper
NM_018718.3
p.V83M
c.247G>A
1 paper
NM_018718.3
p.A74V
c.221C>T
1 paper
NM_018718.3
p.K54T
c.161A>C
1 paper
NM_018718.3
p.Y50_R51delFs
c.150_153del4
3 papers
NM_018718.3
p.M36T
c.107T>C
1 paper
NM_018718.3
p.G33D
c.98G>A
1 paper
NM_018718.3
p.G33Splc
c.98-5T>C
1 paper
NM_018718.3
p.D93Splc
c.278-8A>G
2 papers
NM_018718.3
p.D93Splc
c.278-1G>A
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