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.V2149G

c.6446T>G

Surrounding Variants

1 paper

NM_000132.4

p.N2148delFs

c.6442delT

2 papers

NM_000132.4

p.D2150H

c.6448G>C

3 papers

NM_000132.4

p.D2150N

c.6448G>A

6 papers

NM_000132.4

p.D2150V

c.6449A>T

7 papers

NM_000132.4

p.N2148S

c.6443A>G

1 paper

NM_000132.4

p.D2150A

c.6449A>C

1 paper

NM_000132.4

p.N2148fs

c.6442_6443fs

3 papers

NM_000132.4

p.N2148D

c.6442A>G

1 paper

NM_000132.4

p.V2144_G2147delFs

c.6430_6439del10

2 papers

NM_000132.4

p.G2147D

c.6440G>A

1 paper

NM_000132.4

p.S2151L

c.6452C>T

2 papers

NM_000132.4

p.S2151*

c.6452C>G