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.P540fs

c.1618_1619fs

Surrounding Variants

2 papers

NM_000132.4

p.P540delFs

c.1619delG

2 papers

NM_000132.4

p.P540L

c.1619C>T

1 paper

NM_000132.4

p.P540R

c.1619C>G

3 papers

NM_000132.4

p.T541S

c.1621A>T

2 papers

NM_000132.4

p.P540S

c.1618C>T

2 papers

NM_000132.4

p.T541S

c.1622C>G

1 paper

NM_000132.4

p.P540T

c.1618C>A

4 papers

NM_000132.4

p.G539E

c.1616G>A

3 papers

NM_000132.4

p.G539R

c.1615G>C

2 papers

NM_000132.4

p.G539R

c.1615G>A

1 paper

NM_000132.4

p.D538V

c.1613A>T

1 paper

NM_000132.4

p.S543fs

c.1627_1628fs