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.N803N

c.2409T>C

Surrounding Variants

2 papers

NM_000132.4

p.N803delFs

c.2409delA

1 paper

NM_000132.4

p.N803fs

c.2407_2408fs

3 papers

NM_000132.4

p.Q802*

c.2404C>T

1 paper

NM_000132.4

p.S806insFs

c.2416_2417insG

1 paper

NM_000132.4

p.S806T

c.2416T>A

1 paper

NM_000132.4

p.S806fs

c.2416_2417fs

2 papers

NM_000132.4

p.S806delFs

c.2417delG

1 paper

NM_000132.4

p.S807insFs

c.2419_2420insA

1 paper

NM_000132.4

p.S807N

c.2420G>A

1 paper

NM_000132.4

p.P799delFs

c.2397delA

1 paper

NM_000132.4

p.M798T

c.2393T>C

1 paper

NM_000132.4

p.M798delFs

c.2392delT