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.Q1546*

c.4636C>T

Surrounding Variants

1 paper

NM_000132.4

p.Q1546Fs

c.4636delinsAGFs

1 paper

NM_000132.4

p.S1543insFs

c.4628_4629insC

1 paper

NM_000132.4

p.E1549K

c.4645G>A

1 paper

NM_000132.4

p.E1549fs

c.4645_4646fs

1 paper

NM_000132.4

p.S1543C

c.4627A>T

1 paper

NM_000132.4

p.S1543G

c.4627A>G

2 papers

NM_000132.4

p.E1549delFs

c.4646_4647delCT

1 paper

NM_000132.4

p.V1540delFs

c.4619delA

1 paper

NM_000132.4

p.L1539L

c.4617C>T

1 paper

NM_000132.4

p.K1553delFs

c.4658delT

1 paper

NM_000132.4

p.W1554*

c.4662G>A

1 paper

NM_000132.4

p.R1559fs

c.4675_4676fs