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

2 papers

NM_000132.4

p.L1248F

c.3744A>C

Surrounding Variants

2 papers

NM_000132.4

p.L1248F

c.3744A>T

1 paper

NM_000132.4

p.L1249R

c.3746T>G

1 paper

NM_000132.4

p.F1247delFs

c.3740delA

1 paper

NM_000132.4

p.N1245_F1247Fs

c.3734_3740delinsATTTCTFs

1 paper

NM_000132.4

p.F1247fs

c.3739_3740fs

1 paper

NM_000132.4

p.L1246insFs

c.3737_3738insCC

1 paper

NM_000132.4

p.L1246F

c.3736C>T

1 paper

NM_000132.4

p.N1245Fs

c.3734_3735delinsATTTCTFs

1 paper

NM_000132.4

p.N1245K

c.3735C>G

1 paper

NM_000132.4

p.N1245K

c.3735C>A

1 paper

NM_000132.4

p.N1245fs

c.3733_3734fs

1 paper

NM_000132.4

p.R1252delFs

c.3756delC