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

10 papers

NM_000132.4

p.R1985Q

c.5954G>A

Surrounding Variants

2 papers

NM_000132.4

p.R1985P

c.5954G>C

32 papers

NM_000132.4

p.R1985*

c.5953C>T

1 paper

NM_000132.4

p.R1985G

c.5953C>G

4 papers

NM_000132.4

p.K1986I

c.5957A>T

4 papers

NM_000132.4

p.K1987insFs

c.5961dupA

2 papers

NM_000132.4

p.K1987delFs

c.5961delT

3 papers

NM_000132.4

p.E1988fs

c.5962_5963fs

2 papers

NM_000132.4

p.F1982L

c.5946C>G

2 papers

NM_000132.4

p.F1982L

c.5946C>A

2 papers

NM_000132.4

p.F1982L

c.5944T>C

2 papers

NM_000132.4

p.F1982I

c.5944T>A

1 paper

NM_000132.4

p.E1988fs

c.5962_5963fs