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.R424S

c.1272A>C

Surrounding Variants

1 paper

NM_000132.4

p.R424S

c.1272A>T

1 paper

NM_000132.4

p.R424Splc

c.1272-2A>G

1 paper

NM_000132.4

p.Y426H

c.1276T>C

1 paper

NM_000132.4

p.R424Splc

c.1272-5T>C

1 paper

NM_000132.4

p.Y426insFs

c.1277_1278ins4

1 paper

NM_000132.4

p.K427E

c.1279A>G

2 papers

NM_000132.4

p.K427I

c.1280A>T

1 paper

NM_000132.4

p.Y426_K427insFs

c.1278_1279ins4

1 paper

NM_000132.4

p.S428N

c.1283G>A

1 paper

NM_000132.4

p.S428delFs

c.1282delT

1 paper

NM_000132.4

p.Q429*

c.1285C>T

1 paper

NM_000132.4

p.Q429R

c.1286A>G