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

4 papers

NM_000132.4

p.W1645*

c.4935G>A

Surrounding Variants

3 papers

NM_000132.4

p.W1645*

c.4934G>A

1 paper

NM_000132.4

p.Q1648*

c.4942C>T

1 paper

NM_000132.4

p.G1649fs

c.4945_4946fs

2 papers

NM_000132.4

p.E1642G

c.4925A>G

1 paper

NM_000132.4

p.E1642*

c.4924G>T

1 paper

NM_000132.4

p.E1640K

c.4918G>A

1 paper

NM_000132.4

p.K1638delFs

c.4913delT

1 paper

NM_000132.4

p.K1638fs

c.4912_4913fs

2 papers

NM_000132.4

p.K1638*

c.4912A>T

1 paper

NM_000132.4

p.N1637insFs

c.4911dupT

2 papers

NM_000132.4

p.Q1636*

c.4906C>T

1 paper

NM_000132.4

p.E1634delFs

c.4901delT