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.K1219_K1220delFs

c.3655_3659del5

Surrounding Variants

1 paper

NM_000132.4

p.K1219fs

c.3655_3656fs

1 paper

NM_000132.4

p.T1222delFs

c.3666delT

2 papers

NM_000132.4

p.E1218delFs

c.3652delC

1 paper

NM_000132.4

p.L1223*

c.3668T>A

1 paper

NM_000132.4

p.L1223insFs

c.3668dupT

1 paper

NM_000132.4

p.L1223delFs

c.3668delA

1 paper

NM_000132.4

p.L1223del1

c.3667_3668delTAA

2 papers

NM_000132.4

p.Q1225R

c.3674A>G

1 paper

NM_000132.4

p.Q1214delFs

c.3640delG

1 paper

NM_000132.4

p.Q1214fs

c.3640_3641fs

1 paper

NM_000132.4

p.I1213insFs

c.3639dupT

6 papers

NM_000132.4

p.I1213fs

c.3637_3638fs