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.E1495delFs

c.4483delC

Surrounding Variants

2 papers

NM_000132.4

p.E1495*

c.4483G>T

1 paper

NM_000132.4

p.E1495Q

c.4483G>C

1 paper

NM_000132.4

p.Y1491*

c.4473C>G

1 paper

NM_000132.4

p.Y1491*

c.4473C>A

1 paper

NM_000132.4

p.T1497_L1499delFs

c.4491_4495del5

1 paper

NM_000132.4

p.V1489F

c.4465G>T

3 papers

NM_000132.4

p.T1486delFs

c.4458delT

1 paper

NM_000132.4

p.D1503_L1504ins9

c.4507_4511ins27

1 paper

NM_000132.4

p.N1487I

c.4460A>T

1 paper

NM_000132.4

p.L1504fs

c.4510_4511fs

1 paper

NM_000132.4

p.L1504_P1505insFs

c.4512_4513ins32

2 papers

NM_000132.4

p.L1504delFs

c.4512delC