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.W604*

c.1811G>A

Surrounding Variants

1 paper

NM_000132.4

p.W604L

c.1811G>T

4 papers

NM_000132.4

p.W604R

c.1810T>C

2 papers

NM_000132.4

p.W604R

c.1810T>A

5 papers

NM_000132.4

p.W604C

c.1812G>T

5 papers

NM_000132.4

p.W604C

c.1812G>C

4 papers

NM_000132.4

p.Y605H

c.1813T>C

4 papers

NM_000132.4

p.S603R

c.1809C>G

1 paper

NM_000132.4

p.S603R

c.1809C>A

3 papers

NM_000132.4

p.S603I

c.1808G>T

1 paper

NM_000132.4

p.R602_S603insFs

c.1806_1807dupAA

5 papers

NM_000132.4

p.S603T

c.1808G>C

2 papers

NM_000132.4

p.S603N

c.1808G>A