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

2 papers

NM_000132.4

p.R1708L

c.5123G>T

Surrounding Variants

14 papers

NM_000132.4

p.R1708H

c.5123G>A

22 papers

NM_000132.4

p.R1708C

c.5122C>T

1 paper

NM_000132.4

p.R1708S

c.5122C>A

2 papers

NM_000132.4

p.S1709R

c.5125A>C

1 paper

NM_000132.4

p.S1709delFs

c.5125delT

1 paper

NM_000132.4

p.P1707L

c.5120C>T

3 papers

NM_000132.4

p.P1707R

c.5120C>G

2 papers

NM_000132.4

p.S1709R

c.5127C>G

2 papers

NM_000132.4

p.S1709R

c.5127C>A

1 paper

NM_000132.4

p.Q1705H

c.5115G>T

1 paper

NM_000132.4

p.Q1705H

c.5115G>C

1 paper

NM_000132.4

p.Q1711*

c.5131C>T