Varaico: Literature-Extracted Genetic Variants

Gene:ANAPC2
Variant:p.L129Q

ANAPC2

155 papers

RefSeq Summary

A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and ana...

Pfam Domains

TPR_ANAPC2aa 321–431UCSCANAPC2-like, TPR repeats
Cullin_ABaa 595–726UCSCCullin alpha+beta domain
ANAPC2aa 757–817UCSCAnaphase promoting complex (APC) subunit 2

Gene Aliases

HGNC Name

anaphase promoting complex subunit 2

HGNC Alias Symbol

KIAA1406

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013366.4
p.L129Q
c.386T>A
Surrounding Variants
1 paper
NM_013366.4
p.L131Q
c.392T>A
1 paper
NM_013366.4
p.P124S
c.370C>T
1 paper
NM_013366.4
p.R137H
c.410G>A
1 paper
NM_013366.4
p.L138M
c.412C>A
1 paper
NM_013366.4
p.L140S
c.419T>C
1 paper
NM_013366.4
p.F115Y
c.344T>A
1 paper
NM_013366.4
p.G143G
c.429C>G
1 paper
NM_013366.4
p.T144A
c.430A>G
1 paper
NM_013366.4
p.T144I
c.431C>T
1 paper
NM_013366.4
p.A114S
c.340G>T
1 paper
NM_013366.4
p.A146_Q147delFs
c.438_439delGA
1 paper
NM_013366.4
p.L109F
c.327G>T
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