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.N1020fs

c.3058_3059fs

Surrounding Variants

1 paper

NM_000132.4

p.K1021*

c.3061A>T

1 paper

NM_000132.4

p.T1019_N1020del2

c.3055_3059del6

1 paper

NM_000132.4

p.K1018*

c.3052A>T

1 paper

NM_000132.4

p.N1020_K1021delFs

c.3060_3063del4

1 paper

NM_000132.4

p.N1024_N1025insFs

c.3072_3073insT

3 papers

NM_000132.4

p.S1026*

c.3077C>G

2 papers

NM_000132.4

p.S1026*

c.3077C>A

1 paper

NM_000132.4

p.S1026S

c.3078A>C

1 paper

NM_000132.4

p.N1025_S1026del2

c.3073_3077del6

3 papers

NM_000132.4

p.V1012L

c.3034G>C

1 paper

NM_000132.4

p.K1011delFs

c.3031_3032delTT

1 paper

NM_000132.4

p.K1011fs

c.3031_3032fs