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.P2162S

c.6484C>T

Surrounding Variants

1 paper

NM_000132.4

p.P2161delFs

c.6482delG

1 paper

NM_000132.4

p.P2162L

c.6485C>T

1 paper

NM_000132.4

p.P2161L

c.6482C>T

1 paper

NM_000132.4

p.P2161H

c.6482C>A

1 paper

NM_000132.4

p.P2161S

c.6481C>T

3 papers

NM_000132.4

p.P2161T

c.6481C>A

1 paper

NM_000132.4

p.I2163S

c.6488T>G

1 paper

NM_000132.4

p.I2164V

c.6490A>G

1 paper

NM_000132.4

p.I2163delFs

c.6489delA

2 papers

NM_019863.3

p.I29S

c.86T>G

NM_000132.4

p.I2164S

c.6491T>G

2 papers

NM_000132.4

p.A2165V

c.6494C>T

1 paper

NM_019863.3

p.I23N

c.68T>A