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.G1152_K1155del4

c.3454_3464del12

Surrounding Variants

1 paper

NM_000132.4

p.K1155insFs

c.3465dupA

1 paper

NM_000132.4

p.V1157L

c.3469G>T

1 paper

NM_000132.4

p.E1154K

c.3460G>A

3 papers

NM_000132.4

p.P1153A

c.3457C>G

1 paper

NM_000132.4

p.G1152delFs

c.3455delC

2 papers

NM_000132.4

p.Q1160*

c.3478C>T

1 paper

NM_000132.4

p.Q1160delFs

c.3478delG

1 paper

NM_000132.4

p.Q1147delFs

c.3441delT

1 paper

NM_000132.4

p.S1164delFs

c.3490delA

1 paper

NM_000132.4

p.E1165*

c.3493G>T

1 paper

NM_000132.4

p.Q1147*

c.3439C>T

1 paper

NM_000132.4

p.K1146delFs

c.3438delC