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.F2033S

c.6098T>C

Surrounding Variants

1 paper

NM_000132.4

p.L2032P

c.6095T>C

1 paper

NM_000132.4

p.L2032Fs

c.6094delinsTTFs

1 paper

NM_000132.4

p.L2032V

c.6094C>G

3 papers

NM_000132.4

p.V2035M

c.6103G>A

3 papers

NM_000132.4

p.V2035G

c.6104T>G

10 papers

NM_000132.4

p.V2035A

c.6104T>C

1 paper

NM_000132.4

p.V2035delFs

c.6103delC

2 papers

NM_000132.4

p.T2031I

c.6092C>T

1 paper

NM_000132.4

p.V2035V

c.6105G>C

14 papers

NM_000132.4

p.S2030N

c.6089G>A

4 papers

NM_000132.4

p.Y2036C

c.6107A>G

2 papers

NM_000132.4

p.Y2036Y

c.6108C>T