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.E1343Q

c.4027G>C

Surrounding Variants

1 paper

NM_000132.4

p.E1343*

c.4027G>T

1 paper

NM_000132.4

p.E1342*

c.4024G>T

1 paper

NM_000132.4

p.L1341delFs

c.4021delG

1 paper

NM_000132.4

p.L1341L

c.4021C>T

1 paper

NM_000132.4

p.E1345fs

c.4033_4034fs

1 paper

NM_000132.4

p.E1345D

c.4035A>C

3 papers

NM_000132.4

p.E1347*

c.4039G>T

1 paper

NM_000132.4

p.E1347V

c.4040A>T

1 paper

NM_000132.4

p.R1338fs

c.4012_4013fs

2 papers

NM_000132.4

p.E1347_K1348insFs

c.4041_4042insA

1 paper

NM_000132.4

p.R1349insFs

c.4045_4046insAA

1 paper

NM_000132.4

p.R1349delFs

c.4045delT