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.F627C

c.1880T>G

Surrounding Variants

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.Q628*

c.1882C>T

1 paper

NM_000132.4

p.E626A

c.1877A>C

1 paper

NM_000132.4

p.A629P

c.1885G>C

1 paper

NM_000132.4

p.A629T

c.1885G>A

1 paper

NM_000132.4

p.F627_A629del3

c.1879_1886del9

2 papers

NM_000132.4

p.D624V

c.1871A>T

1 paper

NM_000132.4

p.N631Y

c.1891A>T

4 papers

NM_000132.4

p.N631D

c.1891A>G

2 papers

NM_000132.4

p.N631I

c.1892A>T

2 papers

NM_000132.4

p.N631S

c.1892A>G