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.Y1856S

c.5567A>C

Surrounding Variants

3 papers

NM_000132.4

p.Y1856C

c.5567A>G

1 paper

NM_000132.4

p.Y1856H

c.5566T>C

1 paper

NM_000132.4

p.F1857V

c.5569T>G

1 paper

NM_000132.4

p.A1855delFs

c.5564delG

1 paper

NM_000132.4

p.A1855D

c.5564C>A

1 paper

NM_000132.4

p.A1855fs

c.5563_5564fs

1 paper

NM_000132.4

p.A1855T

c.5563G>A

1 paper

NM_000132.4

p.F1857_S1858insFs

c.5571_5572insT

1 paper

NM_000132.4

p.S1858P

c.5572T>C

1 paper

NM_000132.4

p.S1858fs

c.5572_5573fs

5 papers

NM_000132.4

p.W1854C

c.5562G>T

3 papers

NM_000132.4

p.W1854C

c.5562G>C