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

7 papers

NM_000132.4

p.R560K

c.1679G>A

Surrounding Variants

2 papers

NM_000132.4

p.R560T

c.1679G>C

2 papers

NM_000132.4

p.R560G

c.1678A>G

2 papers

NM_000132.4

p.D561Y

c.1681G>T

4 papers

NM_000132.4

p.D561H

c.1681G>C

3 papers

NM_000132.4

p.D561N

c.1681G>A

1 paper

NM_000132.4

p.D561V

c.1682A>T

5 papers

NM_000132.4

p.D561G

c.1682A>G

3 papers

NM_000132.4

p.D561A

c.1682A>C

3 papers

NM_000132.4

p.D561E

c.1683T>G

4 papers

NM_000132.4

p.D561E

c.1683T>A

1 paper

NM_000132.4

p.D561delFs

c.1682delT

2 papers

NM_000132.4

p.L562P

c.1685T>C