Varaico: Literature-Extracted Genetic Variants

Gene:CENPH
Variant:p.L103F

CENPH

35 papers

RefSeq Summary

Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kineto...

Pfam Domains

CENP-Haa 41–241UCSCCentromere protein H (CENP-H)

Gene Aliases

HGNC Name

centromere protein H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022909.4
p.L103F
c.309A>C
Surrounding Variants
1 paper
NM_022909.4
p.L103F
c.309A>T
1 paper
NM_022909.4
p.R105G
c.313A>G
1 paper
NM_022909.4
p.K100fs
c.298_299fs
1 paper
NM_022909.4
p.K100delFs
c.299delA
1 paper
NM_022909.4
p.E88Q
c.262G>C
1 paper
NM_022909.4
p.E83K
c.247G>A
1 paper
NM_022909.4
p.E83Q
c.247G>C
1 paper
NM_022909.4
p.A80V
c.239C>T
1 paper
NM_022909.4
p.A80T
c.238G>A
1 paper
NM_022909.4
p.M106I
c.318G>A
1 paper
NM_022909.4
p.M106I
c.318G>C
1 paper
NM_022909.4
p.M106I
c.318G>T
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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."