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.K443Q

c.1327A>C

Surrounding Variants

1 paper

NM_000132.4

p.K443*

c.1327A>T

1 paper

NM_000132.4

p.Y442delFs

c.1326delG

3 papers

NM_000132.4

p.Y442C

c.1325A>G

2 papers

NM_000132.4

p.Y442H

c.1324T>C

3 papers

NM_000132.4

p.Y442N

c.1324T>A

1 paper

NM_000132.4

p.K444I

c.1331A>T

2 papers

NM_000132.4

p.K444R

c.1331A>G

2 papers

NM_000132.4

p.K444T

c.1331A>C

5 papers

NM_000132.4

p.K444N

c.1332A>T

1 paper

NM_000132.4

p.K444K

c.1332A>G

4 papers

NM_000132.4

p.K444N

c.1332A>C

1 paper

NM_000132.4

p.V445F

c.1333G>T