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.V1535G

c.4604T>G

Surrounding Variants

1 paper

NM_022662.4

p.G1547S

c.4639G>A

1 paper

NM_022662.4

p.S1517S

c.4551C>T

1 paper

NM_022662.4

p.A1561S

c.4681G>T

4 papers

NM_022662.4

p.S1500S

c.4500C>T

3 papers

NM_022662.4

p.S1458Splc

c.4373+1G>A

1 paper

NM_022662.4

p.P1447P

c.4341G>A

1 paper

NM_022662.4

p.R1571Splc

c.4713-84A>C

1 paper

NM_022662.4

p.N1578Y

c.4732A>T

1 paper

NM_022662.4

p.A1582T

c.4744G>A

1 paper

NM_022662.4

p.A1583T

c.4747G>A

2 papers

NM_022662.4

p.T1628fs

c.4882_4883fs

3 papers

NM_022662.4

p.T1628delFs

c.4882_4883delGT