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

2 papers

NM_000132.4

p.L1002delFs

c.3006delC

Surrounding Variants

1 paper

NM_000132.4

p.A1001delFs

c.3001delC

1 paper

NM_000132.4

p.A1001fs

c.3001_3002fs

5 papers

NM_000132.4

p.H998Q

c.2994T>G

5 papers

NM_000132.4

p.H998Q

c.2994T>A

1 paper

NM_000132.4

p.A1008delFs

c.3024delG

1 paper

NM_000132.4

p.R996R

c.2988A>G

1 paper

NM_000132.4

p.K1011fs

c.3031_3032fs

3 papers

NM_000132.4

p.V1012L

c.3034G>C

1 paper

NM_000132.4

p.K1011delFs

c.3031_3032delTT

1 paper

NM_000132.4

p.F992_K993delFs

c.2974_2977del4

1 paper

NM_000132.4

p.K993*

c.2977A>T

1 paper

NM_000132.4

p.S988_G989insFs

c.2964_2965dupTG