Varaico: Literature-Extracted Genetic Variants

Gene:CENPH
Variant:p.L44P

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.L44P
c.131T>C
Surrounding Variants
1 paper
NM_022909.4
p.A34_C35delFs
c.102_105del4
1 paper
NM_022909.4
p.Q27L
c.80A>T
1 paper
NM_022909.4
p.Q4delins
c.10_12delinsCTT
1 paper
NM_022909.4
p.E2D
c.6G>T
2 papers
NM_022909.4
p.E2K
c.4G>A
1 paper
NM_022909.4
p.M1I
c.3G>T
1 paper
NM_022909.4
p.L46L
c.136C>T
2 papers
NM_022909.4
p.Q52H
c.156A>C
2 papers
NM_022909.4
p.Q52H
c.156A>T
1 paper
NM_022909.4
p.A80T
c.238G>A
1 paper
NM_022909.4
p.A80V
c.239C>T
1 paper
NM_022909.4
p.E83K
c.247G>A
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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."