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.P521L

c.1562C>T

Surrounding Variants

1 paper

NM_000132.4

p.P521R

c.1562C>G

1 paper

NM_000132.4

p.I522V

c.1564A>G

1 paper

NM_000132.4

p.I522T

c.1565T>C

1 paper

NM_000132.4

p.I522delFs

c.1564delT

15 papers

NM_000132.4

p.D519V

c.1556A>T

6 papers

NM_000132.4

p.D519A

c.1556A>C

13 papers

NM_000132.4

p.L523L

c.1569G>T

1 paper

NM_000132.4

p.P524L

c.1571C>T

1 paper

NM_000132.4

p.K518T

c.1553A>C

1 paper

NM_000132.4

p.G525*

c.1573G>T

3 papers

NM_000132.4

p.G525R

c.1573G>C

3 papers

NM_000132.4

p.G525R

c.1573G>A