Varaico: Literature-Extracted Genetic Variants

Gene:CENPA
Variant:p.S57R

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.S57R
c.171C>A
Surrounding Variants
1 paper
NM_001809.4
p.S57R
c.171C>G
1 paper
NM_001809.4
p.T58A
c.172A>G
1 paper
NM_001809.4
p.S57R
c.169A>C
1 paper
NM_001809.4
p.H59Y
c.175C>T
1 paper
NM_001809.4
p.K56Q
c.166A>C
1 paper
NM_001809.4
p.R52Q
c.155G>A
1 paper
NM_001809.4
p.K64Q
c.190A>C
2 papers
NM_001809.4
p.K64R
c.191A>G
1 paper
NM_001809.4
p.E50D
c.150G>C
1 paper
NM_001809.4
p.E50D
c.150G>T
2 papers
NM_001809.4
p.K49R
c.146A>G
1 paper
NM_001809.4
p.K49Q
c.145A>C
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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."