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.Q584delFs

c.1750delG

Surrounding Variants

1 paper

NM_000132.4

p.Q584R

c.1751A>G

3 papers

NM_000132.4

p.Q584H

c.1752G>T

2 papers

NM_000132.4

p.Q584H

c.1752G>C

1 paper

NM_000132.4

p.Q584Q

c.1752G>A

1 paper

NM_000132.4

p.Q584fs

c.1750_1751fs

1 paper

NM_000132.4

p.Q584*

c.1750C>T

5 papers

NM_000132.4

p.Q584K

c.1750C>A

4 papers

NM_000132.4

p.Q584_I585Splc

c.1752+1G>A

1 paper

NM_000132.4

p.N583delFs

c.1748delT

1 paper

NM_000132.4

p.Q584_I585Splc

c.1752+2T>G

4 papers

NM_000132.4

p.N583S

c.1748A>G

2 papers

NM_000132.4

p.G582V

c.1745G>T