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.K29R

c.86A>G

Surrounding Variants

1 paper

NM_022662.4

p.F23C

c.68T>G

1 paper

NM_022662.4

p.A14A

c.42A>C

1 paper

NM_022662.4

p.A45fs

c.133_134fs

2 papers

NM_022662.4

p.P44delFs

c.132delT

2 papers

NM_022662.4

p.A45insFs

c.133_134insGG

2 papers

NM_022662.4

p.E47delFs

c.141delT

1 paper

NM_022662.4

p.L48S

c.143T>C

2 papers

NM_022662.4

p.E7_R8del2

c.19_23del6

1 paper

NM_022662.4

p.Y5C

c.14A>G

1 paper

NM_022662.4

p.F4Y

c.11T>A

2 papers

NM_022662.4

p.N3delFs

c.7_8delTT

1 paper

NM_022662.4

p.M1insFs

c.2dupT