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

5 papers

NM_000132.4

p.M1992I

c.5976G>A

Surrounding Variants

4 papers

NM_000132.4

p.M1992I

c.5976G>T

1 paper

NM_000132.4

p.M1992fs

c.5974_5975fs

4 papers

NM_000132.4

p.M1992I

c.5976G>C

1 paper

NM_000132.4

p.M1992insFs

c.5974dupA

1 paper

NM_000132.4

p.A1993T

c.5977G>A

1 paper

NM_000132.4

p.K1991_M1992delFs

c.5973_5976del4

1 paper

NM_000132.4

p.M1992fs

c.5974_5975fs

2 papers

NM_000132.4

p.A1993V

c.5978C>T

1 paper

NM_000132.4

p.L1994R

c.5981T>G

6 papers

NM_000132.4

p.L1994P

c.5981T>C

2 papers

NM_000132.4

p.L1994Q

c.5981T>A

2 papers

NM_000132.4

p.E1988del1

c.5962_5963delCTC