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.A1798P

c.5392G>C

Surrounding Variants

4 papers

NM_000132.4

p.A1798S

c.5392G>T

6 papers

NM_000132.4

p.A1798T

c.5392G>A

5 papers

NM_000132.4

p.A1798V

c.5393C>T

1 paper

NM_000132.4

p.A1798D

c.5393C>A

2 papers

NM_000132.4

p.S1799P

c.5395T>C

2 papers

NM_000132.4

p.Q1797*

c.5389C>T

2 papers

NM_000132.4

p.N1796delFs

c.5387delT

4 papers

NM_000132.4

p.N1796S

c.5387A>G

10 papers

NM_000132.4

p.R1800C

c.5398C>T

2 papers

NM_000132.4

p.R1800G

c.5398C>G

3 papers

NM_000132.4

p.R1800S

c.5398C>A

2 papers

NM_000132.4

p.N1796D

c.5386A>G