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.Y1802fs

c.5404_5405fs

Surrounding Variants

5 papers

NM_000132.4

p.Y1802C

c.5405A>G

5 papers

NM_000132.4

p.Y1802S

c.5405A>C

1 paper

NM_000132.4

p.Y1802insFs

c.5405_5406insGG

1 paper

NM_000132.4

p.Y1802*

c.5406T>G

2 papers

NM_000132.4

p.S1803P

c.5407T>C

2 papers

NM_000132.4

p.P1801A

c.5401C>G

1 paper

NM_000132.4

p.S1803F

c.5408C>T

3 papers

NM_000132.4

p.S1803Y

c.5408C>A

1 paper

NM_000132.4

p.R1800L

c.5399G>T

27 papers

NM_000132.4

p.R1800H

c.5399G>A

1 paper

NM_000132.4

p.S1803_F1804ins1

c.5409_5410insTCC

2 papers

NM_000132.4

p.F1804L

c.5410T>C