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

1–12 of 4287 variants

46 papers

NM_000132.4

p.R612C

c.1834C>T

44 papers

NM_000132.4

p.I1213delFs

c.3637delT

44 papers

NM_000132.4

p.R2169H

c.6506G>A

38 papers

NM_000132.4

p.D1260E

c.3780C>G

36 papers

NM_000132.4

p.I1213insFs

c.3637dupA

35 papers

NM_000132.4

p.R550C

c.1648C>T

32 papers

NM_000132.4

p.R1985*

c.5953C>T

32 papers

NM_000132.4

p.R2016W

c.6046C>T

27 papers

NM_000132.4

p.R1800H

c.5399G>A

27 papers

NM_000132.4

p.R2182H

c.6545G>A

26 papers

NM_000132.4

p.R2178C

c.6532C>T

25 papers

NM_000132.4

p.R446*

c.1336C>T