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.S1450delFs

c.4349delC

Surrounding Variants

1 paper

NM_000132.4

p.E1449_S1451delFs

c.4346_4352del7

1 paper

NM_000132.4

p.Q1448insFs

c.4342_4343insT

2 papers

NM_000132.4

p.Q1448fs

c.4342_4343fs

1 paper

NM_000132.4

p.V1447delFs

c.4339delC

3 papers

NM_000132.4

p.Q1455*

c.4363C>T

1 paper

NM_000132.4

p.S1445delFs

c.4333delA

1 paper

NM_000132.4

p.D1444fs

c.4330_4331fs

1 paper

NM_000132.4

p.K1443insFs

c.4329dupA

1 paper

NM_000132.4

p.A1457delFs

c.4370delG

1 paper

NM_000132.4

p.K1442N

c.4326G>T

1 paper

NM_000132.4

p.K1442N

c.4326G>C

18 papers

NM_000132.4

p.N1460fs

c.4378_4379fs