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.R1079insFs

c.3235dupA

Surrounding Variants

1 paper

NM_000132.4

p.R1079fs

c.3235_3236fs

1 paper

NM_000132.4

p.L1080L

c.3238C>T

1 paper

NM_000132.4

p.L1080insFs

c.3239dupT

1 paper

NM_000132.4

p.A1077A

c.3231T>G

1 paper

NM_000132.4

p.N1081fs

c.3241_3242fs

2 papers

NM_000132.4

p.N1081delFs

c.3242delT

1 paper

NM_000132.4

p.A1075delFs

c.3224delG

1 paper

NM_000132.4

p.N1085fs

c.3253_3254fs

1 paper

NM_000132.4

p.D1072D

c.3216C>T

1 paper

NM_000132.4

p.T1087insFs

c.3259_3260insT

1 paper

NM_000132.4

p.N1085_K1086delFs

c.3255_3258del4

1 paper

NM_000132.4

p.M1071T

c.3212T>C