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.V1981insFs

c.5941dupG

Surrounding Variants

1 paper

NM_000132.4

p.V1981L

c.5941G>T

4 papers

NM_000132.4

p.V1981M

c.5941G>A

1 paper

NM_000132.4

p.H1980delFs

c.5939_5940delAT

2 papers

NM_000132.4

p.F1982L

c.5944T>C

2 papers

NM_000132.4

p.F1982I

c.5944T>A

2 papers

NM_000132.4

p.H1980R

c.5939A>G

2 papers

NM_000132.4

p.H1980P

c.5939A>C

1 paper

NM_000132.4

p.H1980fs

c.5938_5939fs

3 papers

NM_000132.4

p.H1980Y

c.5938C>T

3 papers

NM_000132.4

p.H1980D

c.5938C>G

2 papers

NM_000132.4

p.F1982L

c.5946C>G

2 papers

NM_000132.4

p.F1982L

c.5946C>A