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.I1409delFs

c.4227delA

Surrounding Variants

1 paper

NM_000132.4

p.I1409fs

c.4225_4226fs

1 paper

NM_000132.4

p.K1411fs

c.4231_4232fs

1 paper

NM_000132.4

p.K1411fs

c.4231_4232fs

2 papers

NM_000132.4

p.K1411delFs

c.4232delT

1 paper

NM_000132.4

p.L1407delFs

c.4220delA

1 paper

NM_000132.4

p.S1413fs

c.4237_4238fs

2 papers

NM_000132.4

p.S1413*

c.4238C>G

1 paper

NM_000132.4

p.S1413*

c.4238C>A

4 papers

NM_000132.4

p.S1414*

c.4241C>G

4 papers

NM_000132.4

p.S1414*

c.4241C>A

1 paper

NM_000132.4

p.S1414delFs

c.4241delG

1 paper

NM_000132.4

p.P1416delFs

c.4247delG