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

3 papers

NM_000132.4

p.M2029I

c.6087G>C

Surrounding Variants

3 papers

NM_000132.4

p.M2029I

c.6087G>T

3 papers

NM_000132.4

p.M2029I

c.6087G>A

14 papers

NM_000132.4

p.S2030N

c.6089G>A

1 paper

NM_000132.4

p.M2029L

c.6085A>T

2 papers

NM_000132.4

p.M2029V

c.6085A>G

1 paper

NM_000132.4

p.M2029L

c.6085A>C

1 paper

NM_000132.4

p.G2028delFs

c.6082delC

3 papers

NM_000132.4

p.G2028W

c.6082G>T

1 paper

NM_000132.4

p.G2028R

c.6082G>C

2 papers

NM_000132.4

p.G2028R

c.6082G>A

2 papers

NM_000132.4

p.T2031I

c.6092C>T

1 paper

NM_000132.4

p.L2032Fs

c.6094delinsTTFs