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.H1973Q

c.5919T>G

Surrounding Variants

1 paper

NM_000132.4

p.H1973Q

c.5919T>A

4 papers

NM_000132.4

p.H1973L

c.5918A>T

3 papers

NM_000132.4

p.H1973R

c.5918A>G

1 paper

NM_000132.4

p.S1974F

c.5921C>T

1 paper

NM_000132.4

p.S1974Y

c.5921C>A

1 paper

NM_000132.4

p.I1975F

c.5923A>T

1 paper

NM_000132.4

p.I1975S

c.5924T>G

2 papers

NM_000132.4

p.I1975T

c.5924T>C

2 papers

NM_000132.4

p.I1975N

c.5924T>A

2 papers

NM_000132.4

p.H1976D

c.5926C>G

1 paper

NM_000132.4

p.N1971S

c.5912A>G

5 papers

NM_000132.4

p.N1971T

c.5912A>C