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.D1861Y

c.5581G>T

Surrounding Variants

1 paper

NM_000132.4

p.D1861G

c.5582A>G

2 papers

NM_000132.4

p.L1862L

c.5586G>A

1 paper

NM_000132.4

p.L1862delFs

c.5585delA

2 papers

NM_000132.4

p.D1859V

c.5576A>T

2 papers

NM_000132.4

p.D1859G

c.5576A>G

1 paper

NM_000132.4

p.D1859delFs

c.5575delC

1 paper

NM_000132.4

p.S1858insFs

c.5574dupT

1 paper

NM_000132.4

p.L1862_E1863Splc

c.5586+1G>A

1 paper

NM_000132.4

p.S1858delFs

c.5574delA

1 paper

NM_000132.4

p.S1858delFs

c.5573_5574delAG

1 paper

NM_000132.4

p.L1862del1

c.5584_5585delCAG

2 papers

NM_000132.4

p.L1862_E1863Splc

c.5586+2T>G