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

3 papers

NM_000132.4

p.P545R

c.1634C>G

Surrounding Variants

2 papers

NM_000132.4

p.P545H

c.1634C>A

1 paper

NM_000132.4

p.P545delFs

c.1633delG

1 paper

NM_000132.4

p.P545fs

c.1633_1634fs

2 papers

NM_000132.4

p.D544E

c.1632T>G

3 papers

NM_000132.4

p.D544E

c.1632T>A

20 papers

NM_000132.4

p.R546W

c.1636C>T

1 paper

NM_000132.4

p.R546Q

c.1637G>A

1 paper

NM_000132.4

p.D544V

c.1631A>T

1 paper

NM_000132.4

p.D544G

c.1631A>G

3 papers

NM_000132.4

p.D544N

c.1630G>A

1 paper

NM_000132.4

p.C547G

c.1639T>G

1 paper

NM_000132.4

p.C547R

c.1639T>C