Varaico: Literature-Extracted Genetic Variants

Gene:CENPP
Variant:p.N46D

CENPP

28 papers

RefSeq Summary

CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic ...

Pfam Domains

CENP-Paa 103–279UCSCCENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

Gene Aliases

HGNC Name

centromere protein P

HGNC Alias Symbols

RP11-19J3.3; CENP-P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012267.3
p.N46D
c.136A>G
Surrounding Variants
1 paper
NM_001012267.3
p.H43del1
c.127_129delCAC
1 paper
NM_001012267.3
p.W50_K51del2
c.148_152del6
1 paper
NM_001012267.3
p.W50_S52del3
c.148_155del9
1 paper
NM_001012267.3
p.A41V
c.122C>T
1 paper
NM_001012267.3
p.Q40L
c.119A>T
1 paper
NM_001012267.3
p.L70L
c.208C>T
1 paper
NM_001012267.3
p.T72M
c.215C>T
1 paper
NM_001012267.3
p.P25R
c.74C>G
1 paper
NM_001012267.3
p.E23K
c.67G>A
1 paper
NM_001012267.3
p.A17delFs
c.50_51delCC
1 paper
NM_001012267.3
p.A17_L18del1
c.50_52delCCC
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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."