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.V874V

c.2622C>T

Surrounding Variants

1 paper

NM_022662.4

p.K853R

c.2558A>G

4 papers

NM_022662.4

p.T838M

c.2513C>T

1 paper

NM_022662.4

p.G826Splc

c.2477-69C>T

1 paper

NM_022662.4

p.G826Splc

c.2476+32A>T

1 paper

NM_022662.4

p.T816T

c.2448T>C

1 paper

NM_022662.4

p.R795Splc

c.2385-113A>T

1 paper

NM_022662.4

p.L790L

c.2370C>T

1 paper

NM_022662.4

p.L778V

c.2332C>G

3 papers

NM_022662.4

p.H767R

c.2300A>G

1 paper

NM_022662.4

p.P760R

c.2279C>G

1 paper

NM_022662.4

p.H758R

c.2273A>G

1 paper

NM_022662.4

p.S752F

c.2255C>T