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.S1272*

c.3815C>G

Surrounding Variants

1 paper

NM_000132.4

p.S1272*

c.3815C>A

1 paper

NM_000132.4

p.S1272fs

c.3814_3815fs

1 paper

NM_000132.4

p.S1272delFs

c.3815delG

1 paper

NM_000132.4

p.Q1268insFs

c.3804dupA

1 paper

NM_000132.4

p.T1277_N1278ins4

c.3829_3833ins12

1 paper

NM_000132.4

p.V1266delFs

c.3798delT

1 paper

NM_000132.4

p.N1278delFs

c.3833delT

4 papers

NM_000132.4

p.R1279K

c.3836G>A

1 paper

NM_000132.4

p.P1265L

c.3794C>T

1 paper

NM_000132.4

p.P1265Q

c.3794C>A

1 paper

NM_000132.4

p.A1264delFs

c.3791delG

1 paper

NM_000132.4

p.T1280R

c.3839C>G