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

8 papers

NM_000132.4

p.K1059*

c.3175A>T

Surrounding Variants

1 paper

NM_000132.4

p.K1060fs

c.3178_3179fs

1 paper

NM_000132.4

p.K1060N

c.3180A>T

1 paper

NM_000132.4

p.K1060N

c.3180A>C

1 paper

NM_000132.4

p.E1057*

c.3169G>T

1 paper

NM_000132.4

p.T1056insFs

c.3168dupT

2 papers

NM_000132.4

p.K1060insFs

c.3180dupA

12 papers

NM_000132.4

p.E1057K

c.3169G>A

2 papers

NM_000132.4

p.V1061fs

c.3181_3182fs

2 papers

NM_000132.4

p.K1060delFs

c.3180delT

1 paper

NM_000132.4

p.V1061delFs

c.3181delC

3 papers

NM_000132.4

p.T1056delFs

c.3167delG

1 paper

NM_000132.4

p.E1053K

c.3157G>A