Varaico: Literature-Extracted Genetic Variants

Gene:ANAPC2
Variant:p.D723E

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.D723E
c.2169C>G
Surrounding Variants
1 paper
NM_013366.4
p.D723E
c.2169C>A
2 papers
NM_013366.4
p.R724W
c.2170C>T
1 paper
NM_013366.4
p.R724Q
c.2171G>A
1 paper
NM_013366.4
p.R720Q
c.2159G>A
1 paper
NM_013366.4
p.E719V
c.2156A>T
1 paper
NM_013366.4
p.V728A
c.2183T>C
2 papers
NM_013366.4
p.D734N
c.2200G>A
1 paper
NM_013366.4
p.E735D
c.2205G>T
1 paper
NM_013366.4
p.E735D
c.2205G>C
1 paper
NM_013366.4
p.G711fs
c.2131_2132fs
1 paper
NM_013366.4
p.P710delFs
c.2130delG
2 papers
NM_013366.4
p.D737N
c.2209G>A
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