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.T2004P

c.6010A>C

Surrounding Variants

1 paper

NM_000132.4

p.T2004A

c.6010A>G

1 paper

NM_000132.4

p.T2004K

c.6011C>A

1 paper

NM_000132.4

p.E2003*

c.6007G>T

1 paper

NM_000132.4

p.F2002delFs

c.6006delA

1 paper

NM_000132.4

p.E2006*

c.6016G>T

2 papers

NM_000132.4

p.E2006K

c.6016G>A

1 paper

NM_000132.4

p.E2006D

c.6018A>T

1 paper

NM_000132.4

p.E2006D

c.6018A>C

1 paper

NM_000132.4

p.M2007V

c.6019A>G

3 papers

NM_000132.4

p.G2000V

c.5999G>T

2 papers

NM_000132.4

p.M2007I

c.6021G>T

4 papers

NM_000132.4

p.G2000A

c.5999G>C