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.Q935*

c.2803C>T

Surrounding Variants

3 papers

NM_000132.4

p.Q935E

c.2803C>G

1 paper

NM_000132.4

p.D933G

c.2798A>G

1 paper

NM_000132.4

p.D937delFs

c.2810delT

2 papers

NM_000132.4

p.S927fs

c.2779_2780fs

1 paper

NM_000132.4

p.K943fs

c.2827_2828fs

1 paper

NM_000132.4

p.P926insFs

c.2777_2778insC

1 paper

NM_000132.4

p.P926delFs

c.2777delG

1 paper

NM_000132.4

p.P926insFs

c.2777_2778insTT

1 paper

NM_000132.4

p.P926Q

c.2777C>A

1 paper

NM_000132.4

p.P926S

c.2776C>T

1 paper

NM_000132.4

p.K944fs

c.2830_2831fs

1 paper

NM_000132.4

p.K944insFs

c.2831dupA