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.D1430N

c.4288G>A

Surrounding Variants

1 paper

NM_000132.4

p.D1430fs

c.4288_4289fs

1 paper

NM_000132.4

p.Q1429*

c.4285C>T

1 paper

NM_000132.4

p.N1431D

c.4291A>G

1 paper

NM_000132.4

p.L1427_D1430delFs

c.4280_4290del11

1 paper

NM_000132.4

p.L1427fs

c.4279_4280fs

1 paper

NM_000132.4

p.L1427L

c.4279C>T

1 paper

NM_000132.4

p.H1434delFs

c.4300delG

1 paper

NM_000132.4

p.S1432_H1434delFs

c.4296_4300del5

3 papers

NM_000132.4

p.A1437T

c.4309G>A

2 papers

NM_000132.4

p.Y1422H

c.4264T>C

1 paper

NM_000132.4

p.I1418T

c.4253T>C

1 paper

NM_000132.4

p.K1442N

c.4326G>T