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.S1288*

c.3863C>G

Surrounding Variants

1 paper

NM_000132.4

p.S1288*

c.3863C>A

18 papers

NM_000132.4

p.S1288S

c.3864A>C

2 papers

NM_000132.4

p.S1288insFs

c.3863dupC

2 papers

NM_000132.4

p.K1289*

c.3865A>T

1 paper

NM_000132.4

p.K1289Q

c.3865A>C

12 papers

NM_000132.4

p.K1290insFs

c.3870dupA

5 papers

NM_000132.4

p.G1291fs

c.3871_3872fs

2 papers

NM_000132.4

p.K1290delFs

c.3870delT

3 papers

NM_000132.4

p.T1284delFs

c.3851_3852delTG

1 paper

NM_000132.4

p.E1292*

c.3874G>T

1 paper

NM_000132.4

p.E1292delFs

c.3874delC

2 papers

NM_000132.4

p.T1284fs

c.3850_3851fs