Varaico: Literature-Extracted Genetic Variants

ANAPC1

169 papers

RefSeq Summary

This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquiti...

Pfam Domains

ANAPC1aa 69–206UCSCAnaphase-promoting complex subunit 1 WD40 beta-propeller domain

ANAPC1aa 554–664UCSCAnaphase-promoting complex subunit 1 WD40 beta-propeller domain

Apc1_MidNaa 666–985UCSCAnaphase-promoting complex subunit 1 middle domain

APC1_4thaa 1023–1217UCSCAPC1 fourth domain

APC1_3rdaa 1617–1702UCSCAPC1 beta sandwich domain

APC1_Caa 1736–1895UCSCAnaphase-promoting complex sub unit 1 C-terminal domain

Gene Aliases

HGNC Name

anaphase promoting complex subunit 1

HGNC Alias Symbols

MCPR; TSG24; APC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022662.4

p.L173S

c.518T>C

Surrounding Variants

1 paper

NM_022662.4

p.Q155*

c.463C>T

1 paper

NM_022662.4

p.E146Q

c.436G>C

1 paper

NM_022662.4

p.Q135K

c.403C>A

2 papers

NM_022662.4

p.I133_S134insGG

c.397_401ins6

4 papers

NM_022662.4

p.N179K

c.537T>A

1 paper

NM_022662.4

p.V180D

c.539T>A

1 paper

NM_022662.4

p.P182A

c.544C>G

1 paper

NM_022662.4

p.P199P

c.597T>C

1 paper

NM_022662.4

p.P222A

c.664C>G

2 papers

NM_022662.4

p.V224L

c.670G>C

1 paper

NM_022662.4

p.S229Splc

c.685+25A>G

1 paper

NM_022662.4

p.G97A

c.290G>C