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.E1597*

c.4789G>T

Surrounding Variants

7 papers

NM_000132.4

p.E1598D

c.4794G>T

6 papers

NM_000132.4

p.E1598D

c.4794G>C

5 papers

NM_000132.4

p.W1599*

c.4796G>A

6 papers

NM_000132.4

p.W1599*

c.4797G>A

1 paper

NM_000132.4

p.K1600N

c.4800A>T

1 paper

NM_000132.4

p.K1600N

c.4800A>C

1 paper

NM_000132.4

p.Q1593*

c.4777C>T

4 papers

NM_000132.4

p.Q1602*

c.4804C>T

1 paper

NM_000132.4

p.Q1602fs

c.4804_4805fs

1 paper

NM_000132.4

p.Q1602delFs

c.4804delG

1 paper

NM_000132.4

p.E1603*

c.4807G>T

1 paper

NM_000132.4

p.Y1590*

c.4770T>G