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.V2144delFs

c.6431delA

Surrounding Variants

2 papers

NM_000132.4

p.V2144insFs

c.6432dupC

2 papers

NM_000132.4

p.F2145C

c.6434T>G

2 papers

NM_000132.4

p.F2145S

c.6434T>C

1 paper

NM_000132.4

p.V2144fs

c.6430_6431fs

2 papers

NM_000132.4

p.M2143_V2144Splc

c.6430-1G>C

1 paper

NM_000132.4

p.M2143_V2144Splc

c.6430-1G>A

4 papers

NM_000132.4

p.M2143_V2144Splc

c.6430-2A>G

8 papers

NM_000132.4

p.F2146S

c.6437T>C

4 papers

NM_000132.4

p.M2143_V2144Splc

c.6430-3C>G

3 papers

NM_000132.4

p.G2147S

c.6439G>A

2 papers

NM_000132.4

p.G2147D

c.6440G>A

1 paper

NM_000132.4

p.V2144_G2147delFs

c.6430_6439del10