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.N1362delFs

c.4085delT

Surrounding Variants

1 paper

NM_000132.4

p.N1362fs

c.4084_4085fs

1 paper

NM_000132.4

p.M1363I

c.4089G>T

1 paper

NM_000132.4

p.M1363I

c.4089G>C

1 paper

NM_000132.4

p.M1363I

c.4089G>A

1 paper

NM_000132.4

p.M1363_K1364delins

c.4089_4090delinsTT

1 paper

NM_000132.4

p.K1364insFs

c.4092dupA

2 papers

NM_000132.4

p.W1359*

c.4077G>A

3 papers

NM_000132.4

p.W1359*

c.4076G>A

1 paper

NM_000132.4

p.L1366delFs

c.4097delA

1 paper

NM_000132.4

p.Q1358*

c.4072C>T

1 paper

NM_000132.4

p.S1356*

c.4067C>A

5 papers

NM_000132.4

p.T1372A

c.4114A>G