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.P1145insFs

c.3434_3435ins4

Surrounding Variants

2 papers

NM_000132.4

p.K1146fs

c.3436_3437fs

1 paper

NM_000132.4

p.S1144delFs

c.3430delT

1 paper

NM_000132.4

p.K1146R

c.3437A>G

1 paper

NM_000132.4

p.K1146delFs

c.3437delT

1 paper

NM_000132.4

p.K1146delFs

c.3436_3437delTT

1 paper

NM_000132.4

p.Q1147*

c.3439C>T

1 paper

NM_000132.4

p.K1146delFs

c.3438delC

1 paper

NM_000132.4

p.Q1147fs

c.3439_3440fs

1 paper

NM_000132.4

p.Q1147delFs

c.3441delT

1 paper

NM_000132.4

p.Q1141*

c.3421C>T

1 paper

NM_000132.4

p.G1152delFs

c.3455delC

1 paper

NM_000132.4

p.L1137delFs

c.3410_3411delCA