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.Y450N

c.1348T>A

Surrounding Variants

1 paper

NM_000132.4

p.Y450D

c.1348T>G

3 papers

NM_000132.4

p.Y450C

c.1349A>G

1 paper

NM_000132.4

p.A449A

c.1347A>G

1 paper

NM_000132.4

p.A449G

c.1346C>G

1 paper

NM_000132.4

p.Y450*

c.1350C>A

1 paper

NM_000132.4

p.T451P

c.1351A>C

1 paper

NM_000132.4

p.M448K

c.1343T>A

1 paper

NM_000132.4

p.D452Y

c.1354G>T

2 papers

NM_000132.4

p.F447L

c.1341T>G

2 papers

NM_000132.4

p.F447L

c.1341T>A

3 papers

NM_000132.4

p.F447S

c.1340T>C

2 papers

NM_000132.4

p.F447L

c.1339T>C