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

4 papers

NM_022662.4

p.R527Q

c.1580G>A

Surrounding Variants

1 paper

NM_022662.4

p.V535D

c.1604T>A

3 papers

NM_022662.4

p.T537A

c.1609A>G

1 paper

NM_022662.4

p.L514M

c.1540C>A

1 paper

NM_022662.4

p.L545F

c.1633C>T

1 paper

NM_022662.4

p.E550_V551Splc

c.1651-23A>G

1 paper

NM_022662.4

p.E559*

c.1675G>T

1 paper

NM_022662.4

p.K565fs

c.1693_1694fs

1 paper

NM_022662.4

p.K565delFs

c.1695delT

1 paper

NM_022662.4

p.D568V

c.1703A>T

1 paper

NM_022662.4

p.D568fs

c.1702_1703fs

2 papers

NM_022662.4

p.N593fs

c.1777_1778fs

3 papers

NM_022662.4

p.N593insFs

c.1778dupA