Varaico: Literature-Extracted Genetic Variants

Gene:ANAPC5
Variant:p.S53G

ANAPC5

74 papers

RefSeq Summary

This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a n...

Pfam Domains

Apc5_Naa 23–169UCSCAnaphase-promoting complex subunit 5, N-terminal domain
Apc5_Naa 23–169UCSCAnaphase-promoting complex subunit 5, N-terminal domain
ANAPC5aa 254–354UCSCAnaphase-promoting complex subunit 5
ANAPC5aa 254–354UCSCAnaphase-promoting complex subunit 5
ANAPC5aa 400–495UCSCAnaphase-promoting complex subunit 5
ANAPC5aa 400–495UCSCAnaphase-promoting complex subunit 5

Gene Aliases

HGNC Name

anaphase promoting complex subunit 5

HGNC Alias Symbol

APC5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016237.5
p.S53G
c.157A>G
Surrounding Variants
1 paper
NM_016237.5
p.V52delFs
c.156delG
1 paper
NM_016237.5
p.V52fs
c.154_155fs
1 paper
NM_016237.5
p.L68fs
c.202_203fs
1 paper
NM_016237.5
p.T31A
c.91A>G
1 paper
NM_016237.5
p.G17E
c.50G>A
1 paper
NM_016237.5
p.N16S
c.47A>G
1 paper
NM_016237.5
p.F10C
c.29T>G
1 paper
NM_016237.5
p.Y79N
c.235T>A
1 paper
NM_016237.5
p.E104V
c.311A>T
1 paper
NM_016237.5
p.L136V
c.406C>G
1 paper
NM_016237.5
p.R137H
c.410G>A
1 paper
NM_016237.5
p.Q163H
c.489G>C
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