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

5 papers

NM_000132.4

p.G1942S

c.5824G>A

Surrounding Variants

2 papers

NM_000132.4

p.G1942R

c.5824G>C

2 papers

NM_000132.4

p.N1941K

c.5823T>G

2 papers

NM_000132.4

p.N1941K

c.5823T>A

2 papers

NM_000132.4

p.G1942V

c.5825G>T

1 paper

NM_000132.4

p.G1942A

c.5825G>C

5 papers

NM_000132.4

p.G1942D

c.5825G>A

4 papers

NM_000132.4

p.N1941I

c.5822A>T

11 papers

NM_000132.4

p.N1941S

c.5822A>G

1 paper

NM_000132.4

p.Y1943D

c.5827T>G

5 papers

NM_000132.4

p.N1941D

c.5821A>G

1 paper

NM_000132.4

p.N1941H

c.5821A>C

1 paper

NM_000132.4

p.N1941_G1942insA

c.5821_5825ins3