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

2 papers

NM_000132.4

p.L913insFs

c.2738_2739insT

Surrounding Variants

1 paper

NM_000132.4

p.N912delFs

c.2734_2735delTT

1 paper

NM_000132.4

p.N912fs

c.2734_2735fs

2 papers

NM_000132.4

p.N912D

c.2734A>G

1 paper

NM_000132.4

p.N912_G916delFs

c.2736_2746del11

1 paper

NM_000132.4

p.G916delFs

c.2748delA

1 paper

NM_000132.4

p.I908delFs

c.2724delA

1 paper

NM_000132.4

p.D918del1

c.2752_2753delATC

1 paper

NM_000132.4

p.L904_I905insFs

c.2712_2713ins5

1 paper

NM_000132.4

p.S922delFs

c.2766delG

1 paper

NM_000132.4

p.L904fs

c.2710_2711fs

1 paper

NM_000132.4

p.N903insFs

c.2708dupA

2 papers

NM_000132.4

p.G924E

c.2771G>A