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.S1189delFs

c.3567delG

Surrounding Variants

1 paper

NM_000132.4

p.S1189fs

c.3565_3566fs

1 paper

NM_000132.4

p.R1191K

c.3572G>A

1 paper

NM_000132.4

p.V1186delFs

c.3557delA

1 paper

NM_000132.4

p.L1193fs

c.3577_3578fs

1 paper

NM_000132.4

p.F1194V

c.3580T>G

1 paper

NM_000132.4

p.L1195delFs

c.3583delG

1 paper

NM_000132.4

p.E1184delFs

c.3551delT

1 paper

NM_000132.4

p.T1196fs

c.3586_3587fs

1 paper

NM_000132.4

p.E1184*

c.3550G>T

1 paper

NM_000132.4

p.D1199fs

c.3595_3596fs

1 paper

NM_000132.4

p.V1180I

c.3538G>A

1 paper

NM_000132.4

p.D1199delFs

c.3597delA