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

4 papers

NM_000132.4

p.N783delFs

c.2348delT

Surrounding Variants

1 paper

NM_000132.4

p.I785fs

c.2353_2354fs

1 paper

NM_000132.4

p.E782*

c.2344G>T

1 paper

NM_000132.4

p.E782K

c.2344G>A

2 papers

NM_000132.4

p.I785delFs

c.2354_2355delTA

1 paper

NM_000132.4

p.N776N

c.2328T>C

1 paper

NM_000132.4

p.P790delFs

c.2369delG

8 papers

NM_000132.4

p.W791*

c.2372G>A

8 papers

NM_000132.4

p.W791*

c.2373G>A

1 paper

NM_000132.4

p.W791_F792insFs

c.2373_2374insG

3 papers

NM_000132.4

p.Q774delFs

c.2322delT

1 paper

NM_000132.4

p.F792delFs

c.2374delA

3 papers

NM_000132.4

p.Q774fs

c.2320_2321fs