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

3 papers

NM_000132.4

p.M1842L

c.5524A>C

Surrounding Variants

2 papers

NM_000132.4

p.M1842L

c.5524A>T

1 paper

NM_000132.4

p.H1841del1

c.5521_5523delATG

4 papers

NM_000132.4

p.M1842I

c.5526G>T

4 papers

NM_000132.4

p.M1842I

c.5526G>C

5 papers

NM_000132.4

p.M1842I

c.5526G>A

1 paper

NM_000132.4

p.H1841L

c.5522A>T

1 paper

NM_000132.4

p.W1836_H1841delFs

c.5508_5521del14

3 papers

NM_000132.4

p.A1843T

c.5527G>A

3 papers

NM_000132.4

p.A1843V

c.5528C>T

1 paper

NM_000132.4

p.H1840L

c.5519A>T

5 papers

NM_000132.4

p.P1844S

c.5530C>T

1 paper

NM_000132.4

p.Q1839insFs

c.5517dupA