Varaico: Literature-Extracted Genetic Variants

F8

1,300 papers

RefSeq Summary

This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, ...

Pfam Domains

Cu-oxidase_3aa 88–202UCSCMulticopper oxidase

Cu-oxidase_3aa 444–577UCSCMulticopper oxidase

Cu-oxidase_2aa 1915–2039UCSCMulticopper oxidase

F5_F8_type_Caa 2055–2185UCSCF5/8 type C domain

F5_F8_type_Caa 2208–2342UCSCF5/8 type C domain

Gene Aliases

HGNC Name

coagulation factor VIII

HGNC Previous Symbol

F8C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000132.4

p.G1473delFs

c.4418delC

Surrounding Variants

1 paper

NM_000132.4

p.G1473fs

c.4417_4418fs

1 paper

NM_000132.4

p.G1473_D1474ins6

c.4417_4421ins18

1 paper

NM_000132.4

p.R1476*

c.4426A>T

1 paper

NM_000132.4

p.E1470*

c.4408G>T

1 paper

NM_000132.4

p.E1470fs

c.4408_4409fs

1 paper

NM_000132.4

p.V1478G

c.4433T>G

1 paper

NM_000132.4

p.T1468I

c.4403C>T

1 paper

NM_000132.4

p.T1468delFs

c.4402delT

1 paper

NM_000132.4

p.G1479D

c.4436G>A

2 papers

NM_000132.4

p.L1481P

c.4442T>C

6 papers

NM_000132.4

p.S1463_L1464delFs

c.4388_4391del4

1 paper

NM_000132.4

p.T1483fs

c.4447_4448fs