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.S1807R

c.5421C>A

Surrounding Variants

1 paper

NM_000132.4

p.S1807R

c.5421C>G

2 papers

NM_000132.4

p.S1807T

c.5420G>C

2 papers

NM_000132.4

p.L1808F

c.5422C>T

1 paper

NM_000132.4

p.L1808P

c.5423T>C

1 paper

NM_000132.4

p.L1808delFs

c.5422delG

1 paper

NM_000132.4

p.S1807C

c.5419A>T

3 papers

NM_000132.4

p.S1807G

c.5419A>G

1 paper

NM_000132.4

p.S1807R

c.5419A>C

1 paper

NM_000132.4

p.S1806F

c.5417C>T

2 papers

NM_000132.4

p.I1809F

c.5425A>T

1 paper

NM_000132.4

p.I1809S

c.5426T>G

4 papers

NM_000132.4

p.S1806P

c.5416T>C