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.R550R

c.1650C>T

Surrounding Variants

1 paper

NM_000132.4

p.R550L

c.1649G>T

2 papers

NM_000132.4

p.R550P

c.1649G>C

19 papers

NM_000132.4

p.R550H

c.1649G>A

35 papers

NM_000132.4

p.R550C

c.1648C>T

4 papers

NM_000132.4

p.R550G

c.1648C>G

1 paper

NM_000132.4

p.Y551C

c.1652A>G

1 paper

NM_000132.4

p.Y552D

c.1654T>G

2 papers

NM_000132.4

p.Y552H

c.1654T>C

2 papers

NM_000132.4

p.T549N

c.1646C>A

1 paper

NM_000132.4

p.Y551delFs

c.1653delA

1 paper

NM_000132.4

p.L548_T549insFs

c.1644_1645insT

1 paper

NM_000132.4

p.Y552*

c.1656C>A