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.T1314P

c.3940A>C

Surrounding Variants

1 paper

NM_000132.4

p.R1315fs

c.3943_3944fs

2 papers

NM_000132.4

p.R1315delFs

c.3943delT

1 paper

NM_000132.4

p.C1312*

c.3936C>A

1 paper

NM_000132.4

p.I1316V

c.3946A>G

1 paper

NM_000132.4

p.K1309E

c.3925A>G

1 paper

NM_000132.4

p.V1307V

c.3921A>C

1 paper

NM_000132.4

p.Q1322fs

c.3964_3965fs

1 paper

NM_000132.4

p.Q1322delFs

c.3965delT

2 papers

NM_000132.4

p.Q1305*

c.3913C>T

1 paper

NM_000132.4

p.Q1323*

c.3967C>T

1 paper

NM_000132.4

p.T1303fs

c.3907_3908fs

1 paper

NM_000132.4

p.T1303delFs

c.3907_3908delGT