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.T854R

c.2561C>G

Surrounding Variants

1 paper

NM_000132.4

p.T854_H855insG

c.2560_2564ins3

1 paper

NM_000132.4

p.H855fs

c.2563_2564fs

1 paper

NM_000132.4

p.H855insFs

c.2563dupC

1 paper

NM_000132.4

p.S851_H855insFs

c.2551_2563dup13

1 paper

NM_000132.4

p.H855delFs

c.2564_2565delGT

1 paper

NM_000132.4

p.R857delFs

c.2571delC

1 paper

NM_000132.4

p.P858L

c.2573C>T

1 paper

NM_000132.4

p.Q859delFs

c.2577delC

1 paper

NM_000132.4

p.N847N

c.2541T>C

2 papers

NM_000132.4

p.N847T

c.2540A>C

2 papers

NM_000132.4

p.D845_S846delFs

c.2534_2537del4

5 papers

NM_000132.4

p.D845E

c.2535C>G