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.L566H

c.1697T>A

Surrounding Variants

1 paper

NM_000132.4

p.L566R

c.1697T>G

1 paper

NM_000132.4

p.L566P

c.1697T>C

6 papers

NM_000132.4

p.L566F

c.1696C>T

4 papers

NM_000132.4

p.I567F

c.1699A>T

4 papers

NM_000132.4

p.I567T

c.1700T>C

3 papers

NM_000132.4

p.G565E

c.1694G>A

1 paper

NM_000132.4

p.G565R

c.1693G>C

4 papers

NM_000132.4

p.G565R

c.1693G>A

3 papers

NM_000132.4

p.G568C

c.1702G>T

2 papers

NM_000132.4

p.G568S

c.1702G>A

2 papers

NM_000132.4

p.G568V

c.1703G>T

4 papers

NM_000132.4

p.G568D

c.1703G>A