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.T535S

c.1603A>T

Surrounding Variants

1 paper

NM_000132.4

p.V534G

c.1601T>G

3 papers

NM_000132.4

p.V534A

c.1601T>C

4 papers

NM_000132.4

p.W532*

c.1596G>A

1 paper

NM_000132.4

p.W532S

c.1595G>C

5 papers

NM_000132.4

p.W532*

c.1595G>A

1 paper

NM_000132.4

p.W532G

c.1594T>G

4 papers

NM_000132.4

p.W532R

c.1594T>C

4 papers

NM_000132.4

p.W532R

c.1594T>A

1 paper

NM_000132.4

p.D538V

c.1613A>T

3 papers

NM_000132.4

p.G539R

c.1615G>C

2 papers

NM_000132.4

p.G539R

c.1615G>A

4 papers

NM_000132.4

p.G539E

c.1616G>A