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.I485V

c.1453A>G

Surrounding Variants

1 paper

NM_022662.4

p.G502E

c.1505G>A

2 papers

NM_022662.4

p.A480P

c.1438G>C

1 paper

NM_022662.4

p.S470L

c.1409C>T

1 paper

NM_022662.4

p.L466L

c.1398C>T

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

1 paper

NM_022662.4

p.E447K

c.1339G>A

4 papers

NM_022662.4

p.L436L

c.1308A>G

1 paper

NM_022662.4

p.K429E

c.1285A>G

1 paper

NM_022662.4

p.R421Splc

c.1263-62A>G

12 papers

NM_022662.4

p.T416M

c.1247C>T