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.W1726C

c.5178G>C

Surrounding Variants

2 papers

NM_000132.4

p.W1726C

c.5178G>T

4 papers

NM_000132.4

p.W1726*

c.5178G>A

3 papers

NM_000132.4

p.W1726S

c.5177G>C

4 papers

NM_000132.4

p.W1726*

c.5177G>A

2 papers

NM_000132.4

p.W1726R

c.5176T>C

1 paper

NM_000132.4

p.W1726R

c.5176T>A

2 papers

NM_000132.4

p.D1727V

c.5180A>T

1 paper

NM_000132.4

p.D1727G

c.5180A>G

1 paper

NM_000132.4

p.D1727insFs

c.5180_5181insTT

1 paper

NM_000132.4

p.D1727delFs

c.5179delC

1 paper

NM_000132.4

p.L1725delFs

c.5174delA

2 papers

NM_000132.4

p.Y1728H

c.5182T>C