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

2 papers

NM_000132.4

p.E1848D

c.5544G>T

Surrounding Variants

2 papers

NM_000132.4

p.E1848D

c.5544G>C

1 paper

NM_000132.4

p.F1849L

c.5545T>C

1 paper

NM_000132.4

p.F1849I

c.5545T>A

7 papers

NM_000132.4

p.E1848V

c.5543A>T

6 papers

NM_000132.4

p.E1848G

c.5543A>G

2 papers

NM_000132.4

p.E1848A

c.5543A>C

1 paper

NM_000132.4

p.E1848delFs

c.5542delC

1 paper

NM_000132.4

p.F1849C

c.5546T>G

5 papers

NM_000132.4

p.E1848K

c.5542G>A

1 paper

NM_000132.4

p.F1849L

c.5547T>G

1 paper

NM_000132.4

p.F1849L

c.5547T>A

4 papers

NM_000132.4

p.D1847G

c.5540A>G