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.E453*

c.1357G>T

Surrounding Variants

1 paper

NM_000132.4

p.D452Y

c.1354G>T

1 paper

NM_000132.4

p.T454S

c.1360A>T

1 paper

NM_000132.4

p.T454_F455insC

c.1360_1364ins3

2 papers

NM_000132.4

p.T454I

c.1361C>T

1 paper

NM_000132.4

p.T454S

c.1361C>G

2 papers

NM_000132.4

p.F455I

c.1363T>A

1 paper

NM_000132.4

p.T451P

c.1351A>C

2 papers

NM_000132.4

p.F455C

c.1364T>G

2 papers

NM_000132.4

p.F455S

c.1364T>C

1 paper

NM_000132.4

p.Y450*

c.1350C>A

3 papers

NM_000132.4

p.Y450C

c.1349A>G

1 paper

NM_000132.4

p.Y450D

c.1348T>G