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.L622insFs

c.1864_1865ins4

Surrounding Variants

1 paper

NM_000132.4

p.Q621delFs

c.1861delG

2 papers

NM_000132.4

p.Q621*

c.1861C>T

2 papers

NM_000132.4

p.D624V

c.1871A>T

3 papers

NM_000132.4

p.V620M

c.1858G>A

1 paper

NM_000132.4

p.E626A

c.1877A>C

1 paper

NM_000132.4

p.F627C

c.1880T>G

1 paper

NM_000132.4

p.F627S

c.1880T>C

1 paper

NM_000132.4

p.F627Y

c.1880T>A

2 papers

NM_000132.4

p.N616insFs

c.1848dupT

2 papers

NM_000132.4

p.P617fs

c.1849_1850fs

2 papers

NM_000132.4

p.Q628*

c.1882C>T

1 paper

NM_000132.4

p.P615delFs

c.1845delG