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.T457insFs

c.1369_1370ins2

Surrounding Variants

1 paper

NM_000132.4

p.T457N

c.1370C>A

1 paper

NM_000132.4

p.K456R

c.1367A>G

7 papers

NM_000132.4

p.R458C

c.1372C>T

1 paper

NM_000132.4

p.K456*

c.1366A>T

2 papers

NM_000132.4

p.R458H

c.1373G>A

2 papers

NM_000132.4

p.F455C

c.1364T>G

2 papers

NM_000132.4

p.F455S

c.1364T>C

2 papers

NM_000132.4

p.F455I

c.1363T>A

2 papers

NM_000132.4

p.T454I

c.1361C>T

1 paper

NM_000132.4

p.T454S

c.1361C>G

1 paper

NM_000132.4

p.T454S

c.1360A>T

1 paper

NM_000132.4

p.T454_F455insC

c.1360_1364ins3