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

44 papers

NM_000132.4

p.R2169H

c.6506G>A

Surrounding Variants

5 papers

NM_000132.4

p.R2169L

c.6506G>T

10 papers

NM_000132.4

p.R2169C

c.6505C>T

1 paper

NM_000132.4

p.I2168N

c.6503T>A

2 papers

NM_000132.4

p.H2171Y

c.6511C>T

1 paper

NM_000132.4

p.Y2167*

c.6501C>G

2 papers

NM_000132.4

p.Y2167*

c.6501C>A

1 paper

NM_000132.4

p.H2171R

c.6512A>G

1 paper

NM_000132.4

p.Y2167H

c.6499T>C

2 papers

NM_000132.4

p.R2166L

c.6497G>T

2 papers

NM_000132.4

p.R2166Q

c.6497G>A

2 papers

NM_000132.4

p.P2172L

c.6515C>T

4 papers

NM_000132.4

p.P2172R

c.6515C>G