Varaico: Literature-Extracted Genetic Variants

Gene:CETN2
Variant:p.T118S

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.T118S
c.353C>G
Surrounding Variants
1 paper
NM_004344.3
p.T118S
c.352A>T
2 papers
NM_004344.3
p.T118A
c.352A>G
1 paper
NM_004344.3
p.E117D
c.351A>T
1 paper
NM_004344.3
p.E117D
c.351A>C
1 paper
NM_004344.3
p.I121delFs
c.361delT
1 paper
NM_004344.3
p.D115N
c.343G>A
1 paper
NM_004344.3
p.D114A
c.341A>C
1 paper
NM_004344.3
p.D114Y
c.340G>T
1 paper
NM_004344.3
p.F113L
c.339T>G
1 paper
NM_004344.3
p.F113L
c.339T>A
1 paper
NM_004344.3
p.F113L
c.337T>C
1 paper
NM_004344.3
p.A109T
c.325G>A
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