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.R1252delFs

c.3756delC

Surrounding Variants

1 paper

NM_000132.4

p.N1254fs

c.3760_3761fs

1 paper

NM_000132.4

p.N1254insFs

c.3761dupA

1 paper

NM_000132.4

p.E1256*

c.3766G>T

1 paper

NM_000132.4

p.L1249R

c.3746T>G

1 paper

NM_000132.4

p.G1257fs

c.3769_3770fs

1 paper

NM_000132.4

p.G1257insFs

c.3769_3770insA

1 paper

NM_000132.4

p.G1257A

c.3770G>C

2 papers

NM_000132.4

p.L1248F

c.3744A>T

2 papers

NM_000132.4

p.L1248F

c.3744A>C

1 paper

NM_000132.4

p.G1257delFs

c.3771delA

1 paper

NM_000132.4

p.F1247delFs

c.3740delA

1 paper

NM_000132.4

p.N1245_F1247Fs

c.3734_3740delinsATTTCTFs