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.R1816insFs

c.5447_5448dupGG

Surrounding Variants

1 paper

NM_000132.4

p.Q1817*

c.5449C>T

1 paper

NM_000132.4

p.Q1817fs

c.5449_5450fs

5 papers

NM_000132.4

p.G1818*

c.5452G>T

1 paper

NM_000132.4

p.Q1817delFs

c.5451delT

1 paper

NM_000132.4

p.G1818fs

c.5452_5453fs

1 paper

NM_000132.4

p.D1814_Q1815del2

c.5440_5444del6

1 paper

NM_000132.4

p.G1818insFs

c.5453_5454insGA

1 paper

NM_000132.4

p.D1814V

c.5441A>T

1 paper

NM_000132.4

p.D1814N

c.5440G>A

1 paper

NM_000132.4

p.E1820delFs

c.5460delT

1 paper

NM_000132.4

p.R1822*

c.5464A>T

1 paper

NM_000132.4

p.Y1811*

c.5433T>G