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.S901T

c.2701T>A

Surrounding Variants

1 paper

NM_000132.4

p.S901_N902insCTA

c.2701_2705ins9

2 papers

NM_000132.4

p.S901*

c.2702C>G

2 papers

NM_000132.4

p.S901*

c.2702C>A

1 paper

NM_000132.4

p.S901_N902insFs

c.2703_2704insCT

1 paper

NM_000132.4

p.S899delFs

c.2696delC

2 papers

NM_000132.4

p.S899fs

c.2695_2696fs

1 paper

NM_000132.4

p.N902delFs

c.2706delA

1 paper

NM_000132.4

p.N903insFs

c.2708dupA

1 paper

NM_000132.4

p.L904fs

c.2710_2711fs

1 paper

NM_000132.4

p.L904_I905insFs

c.2712_2713ins5

1 paper

NM_000132.4

p.F895L

c.2685C>G

1 paper

NM_000132.4

p.D894fs

c.2680_2681fs