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

26 papers

NM_000132.4

p.R2178C

c.6532C>T

Surrounding Variants

1 paper

NM_000132.4

p.I2163_I2177ins5

c.6487_6531dup45

3 papers

NM_000132.4

p.R2178L

c.6533G>T

11 papers

NM_000132.4

p.R2178H

c.6533G>A

3 papers

NM_000132.4

p.S2179R

c.6535A>C

2 papers

NM_000132.4

p.S2176R

c.6528C>G

2 papers

NM_000132.4

p.S2176R

c.6528C>A

4 papers

NM_000132.4

p.S2179R

c.6537C>G

3 papers

NM_000132.4

p.S2179R

c.6537C>A

2 papers

NM_000132.4

p.S2176R

c.6526A>C

1 paper

NM_000132.4

p.Y2175*

c.6525T>G

1 paper

NM_000132.4

p.Y2175*

c.6525T>A

1 paper

NM_000132.4

p.T2180I

c.6539C>T