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.A1721E

c.5162C>A

Surrounding Variants

2 papers

NM_000132.4

p.A1720V

c.5159C>T

3 papers

NM_000132.4

p.A1720D

c.5159C>A

4 papers

NM_000132.4

p.A1720T

c.5158G>A

2 papers

NM_000132.4

p.F1718_I1719delFs

c.5153_5157del5

1 paper

NM_000132.4

p.E1723*

c.5167G>T

2 papers

NM_000132.4

p.E1723K

c.5167G>A

1 paper

NM_000132.4

p.I1719T

c.5156T>C

1 paper

NM_000132.4

p.F1718delFs

c.5154delA

1 paper

NM_000132.4

p.F1718del1

c.5152_5154delAAA

2 papers

NM_000132.4

p.F1718L

c.5154T>G

2 papers

NM_000132.4

p.F1718L

c.5154T>A

2 papers

NM_000132.4

p.F1718L

c.5152T>C