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.N609K

c.1827T>G

Surrounding Variants

1 paper

NM_000132.4

p.N609K

c.1827T>A

3 papers

NM_000132.4

p.N609Y

c.1825A>T

1 paper

NM_000132.4

p.N609D

c.1825A>G

1 paper

NM_000132.4

p.E608fs

c.1822_1823fs

5 papers

NM_000132.4

p.Q611*

c.1831C>T

46 papers

NM_000132.4

p.R612C

c.1834C>T

1 paper

NM_000132.4

p.R612L

c.1835G>T

5 papers

NM_000132.4

p.R612P

c.1835G>C

4 papers

NM_000132.4

p.R612H

c.1835G>A

1 paper

NM_000132.4

p.Q611del1

c.1831_1832delTTG

1 paper

NM_000132.4

p.E608_R612delFs

c.1823_1835del13

1 paper

NM_000132.4

p.F613insFs

c.1837_1838ins11