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.F447L

c.1339T>C

Surrounding Variants

3 papers

NM_000132.4

p.F447S

c.1340T>C

2 papers

NM_000132.4

p.F447L

c.1341T>G

2 papers

NM_000132.4

p.F447L

c.1341T>A

4 papers

NM_000132.4

p.R446P

c.1337G>C

3 papers

NM_000132.4

p.R446Q

c.1337G>A

25 papers

NM_000132.4

p.R446*

c.1336C>T

4 papers

NM_000132.4

p.R446G

c.1336C>G

1 paper

NM_000132.4

p.M448K

c.1343T>A

1 paper

NM_000132.4

p.V445F

c.1333G>T

2 papers

NM_000132.4

p.K444insFs

c.1332dupA

1 paper

NM_000132.4

p.V445L

c.1333G>C

3 papers

NM_000132.4

p.K444delFs

c.1332delT