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

3 papers

NM_000132.4

p.S554C

c.1660A>T

Surrounding Variants

5 papers

NM_000132.4

p.S554G

c.1660A>G

2 papers

NM_000132.4

p.S554R

c.1660A>C

2 papers

NM_000132.4

p.S554N

c.1661G>A

1 paper

NM_000132.4

p.S554R

c.1662T>G

1 paper

NM_000132.4

p.S554R

c.1662T>A

1 paper

NM_000132.4

p.S553F

c.1658C>T

3 papers

NM_000132.4

p.S553C

c.1658C>G

2 papers

NM_000132.4

p.S553P

c.1657T>C

1 paper

NM_000132.4

p.Y552*

c.1656C>A

1 paper

NM_000132.4

p.F555delFs

c.1664delA

1 paper

NM_000132.4

p.Y551delFs

c.1653delA

1 paper

NM_000132.4

p.Y552D

c.1654T>G