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

4 papers

NM_000132.4

p.R1126W

c.3376A>T

Surrounding Variants

3 papers

NM_000132.4

p.W1127*

c.3380G>A

5 papers

NM_000132.4

p.W1127*

c.3381G>A

1 paper

NM_000132.4

p.Q1129R

c.3386A>G

1 paper

NM_000132.4

p.P1122insFs

c.3364_3365insC

1 paper

NM_000132.4

p.Q1129delFs

c.3385delG

1 paper

NM_000132.4

p.P1122L

c.3365C>T

1 paper

NM_000132.4

p.R1130fs

c.3388_3389fs

1 paper

NM_000132.4

p.R1130M

c.3389G>T

2 papers

NM_000132.4

p.R1130delFs

c.3388delT

1 paper

NM_000132.4

p.T1131I

c.3392C>T

1 paper

NM_000132.4

p.M1118I

c.3354G>T

1 paper

NM_000132.4

p.K1134N

c.3402G>T