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.K1459_N1460delFs

c.4377_4380del4

Surrounding Variants

1 paper

NM_000132.4

p.N1461fs

c.4381_4382fs

2 papers

NM_000132.4

p.N1461insFs

c.4381_4382insA

2 papers

NM_000132.4

p.N1461delFs

c.4382delT

2 papers

NM_000132.4

p.L1462P

c.4385T>C

2 papers

NM_000132.4

p.N1460delFs

c.4380delA

4 papers

NM_000132.4

p.N1460fs

c.4378_4379fs

23 papers

NM_000132.4

p.N1460insFs

c.4379dupA

5 papers

NM_000132.4

p.N1460K

c.4380T>G

5 papers

NM_000132.4

p.N1460K

c.4380T>A

23 papers

NM_000132.4

p.N1460delFs

c.4379delT

3 papers

NM_000132.4

p.N1460I

c.4379A>T

18 papers

NM_000132.4

p.N1460fs

c.4378_4379fs