Varaico: Literature-Extracted Genetic Variants

Gene:CENPA
Variant:p.A88V

CENPA

152 papers

RefSeq Summary

Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain ...

Pfam Domains

Histoneaa 43–132UCSCCore histone H2A/H2B/H3/H4 domain

Gene Aliases

HGNC Name

centromere protein A

HGNC Alias Symbols

CENP-A; CenH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001809.4
p.A88V
c.263C>T
Surrounding Variants
1 paper
NM_001809.4
p.A90V
c.269C>T
1 paper
NM_001809.4
p.W86R
c.256T>A
1 paper
NM_001809.4
p.W86R
c.256T>C
1 paper
NM_001809.4
p.L91P
c.272T>C
1 paper
NM_001809.4
p.F84I
c.250T>A
2 papers
NM_001809.4
p.G81A
c.242G>C
1 paper
NM_001809.4
p.R80C
c.238C>T
1 paper
NM_001809.4
p.E96_A97Splc
c.288+1G>T
1 paper
NM_001809.4
p.K77R
c.230A>G
1 paper
NM_001809.4
p.K77Q
c.229A>C
1 paper
NM_001809.4
p.E73*
c.217G>T
1 paper
NM_001809.4
p.F101L
c.303T>G
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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."