Varaico: Literature-Extracted Genetic Variants

Gene:CETN2
Variant:p.E144A

CETN2

53 papers

RefSeq Summary

Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome...

Pfam Domains

EF-hand_7aa 30–94UCSCEF-hand domain pair
EF-hand_7aa 103–167UCSCEF-hand domain pair

Gene Aliases

HGNC Name

centrin 2

HGNC Previous Symbol

CALT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004344.3
p.E144A
c.431A>C
Surrounding Variants
1 paper
NM_004344.3
p.D150A
c.449A>C
1 paper
NM_004344.3
p.S158N
c.473G>A
1 paper
NM_004344.3
p.K167T
c.500A>C
2 papers
NM_004344.3
p.T169P
c.505A>C
1 paper
NM_004344.3
p.T138A
c.412A>G
1 paper
NM_004344.3
p.E132D
c.396G>T
1 paper
NM_004344.3
p.E132D
c.396G>C
1 paper
NM_004344.3
p.K131N
c.393G>T
1 paper
NM_004344.3
p.K131N
c.393G>C
1 paper
NM_004344.3
p.I121delFs
c.361delT
1 paper
NM_004344.3
p.T118S
c.353C>G
1 paper
NM_004344.3
p.T118S
c.352A>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."