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.G864fs

c.2590_2591fs

Surrounding Variants

1 paper

NM_000132.4

p.G864E

c.2591G>A

1 paper

NM_000132.4

p.G864R

c.2590G>C

1 paper

NM_000132.4

p.G864R

c.2590G>A

2 papers

NM_000132.4

p.V867L

c.2599G>T

3 papers

NM_000132.4

p.V867L

c.2599G>C

1 paper

NM_000132.4

p.V867E

c.2600T>A

1 paper

NM_000132.4

p.V867_F868insFs

c.2601_2602insG

1 paper

NM_000132.4

p.T869insFs

c.2605_2606insC

1 paper

NM_000132.4

p.Q859delFs

c.2577delC

1 paper

NM_000132.4

p.P870fs

c.2608_2609fs

1 paper

NM_000132.4

p.P870R

c.2609C>G

1 paper

NM_000132.4

p.P870delFs

c.2609delG