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.Y1699*

c.5097T>A

Surrounding Variants

1 paper

NM_000132.4

p.Y1699*

c.5097T>G

9 papers

NM_000132.4

p.Y1699F

c.5096A>T

1 paper

NM_000132.4

p.Y1699C

c.5096A>G

1 paper

NM_000132.4

p.Y1699S

c.5096A>C

6 papers

NM_000132.4

p.I1698T

c.5093T>C

3 papers

NM_000132.4

p.E1701K

c.5101G>A

1 paper

NM_000132.4

p.D1695_F1696delFs

c.5084_5087del4

2 papers

NM_000132.4

p.F1696S

c.5087T>C

1 paper

NM_000132.4

p.D1695fs

c.5083_5084fs

1 paper

NM_000132.4

p.N1704delFs

c.5111delT

3 papers

NM_000132.4

p.Q1705*

c.5113C>T

1 paper

NM_000132.4

p.E1694*

c.5080G>T