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.S372*

c.1115C>G

Surrounding Variants

1 paper

NM_022662.4

p.S372*

c.1115C>A

1 paper

NM_022662.4

p.R380S

c.1140A>T

1 paper

NM_022662.4

p.R380S

c.1140A>C

2 papers

NM_022662.4

p.S362A

c.1084T>G

1 paper

NM_022662.4

p.A357S

c.1069G>T

1 paper

NM_022662.4

p.L396insFs

c.1187_1188insGG

12 papers

NM_022662.4

p.T416M

c.1247C>T

1 paper

NM_022662.4

p.S351Splc

c.1052+53A>G

1 paper

NM_022662.4

p.S345delFs

c.1033delA

1 paper

NM_022662.4

p.S345fs

c.1033_1034fs

1 paper

NM_022662.4

p.Q328*

c.982C>T

1 paper

NM_022662.4

p.Q288L

c.863A>T