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

1–12 of 143 variants

15 papers

NM_022662.4

p.Q465*

c.1393C>T

14 papers

NM_022662.4

p.Q451H

c.1353G>T

14 papers

NM_022662.4

p.Q451H

c.1353G>C

12 papers

NM_022662.4

p.T416M

c.1247C>T

5 papers

NM_022662.4

p.A902Splc

c.2705-198C>T

5 papers

NM_022662.4

p.I1791I

c.5373C>A

4 papers

NM_022662.4

p.I66I

c.198C>T

4 papers

NM_022662.4

p.N179K

c.537T>A

4 papers

NM_022662.4

p.L436L

c.1308A>G

4 papers

NM_022662.4

p.R527Q

c.1580G>A

4 papers

NM_022662.4

p.T838M

c.2513C>T

4 papers

NM_022662.4

p.S1500S

c.4500C>T