Varaico: Literature-Extracted Genetic Variants

F5

934 papers

RefSeq Summary

This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin dur...

Pfam Domains

Cu-oxidase_3aa 64–197UCSCMulticopper oxidase

Cu-oxidase_3aa 1641–1753UCSCMulticopper oxidase

F5_F8_type_Caa 1922–2058UCSCF5/8 type C domain

F5_F8_type_Caa 2081–2218UCSCF5/8 type C domain

Gene Aliases

HGNC Name

coagulation factor V

HGNC Previous Name

coagulation factor V (proaccelerin, labile factor)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000130.5

p.I171V

c.511A>G

Surrounding Variants

1 paper

NM_000130.5

p.L168P

c.503T>C

1 paper

NM_000130.5

p.Y173*

c.519C>G

1 paper

NM_000130.5

p.Y173*

c.519C>A

10 papers

NM_000130.5

p.H175R

c.524A>G

1 paper

NM_000130.5

p.E176K

c.526G>A

1 paper

NM_000130.5

p.P165delFs

c.495delA

1 paper

NM_000130.5

p.P166fs

c.496_497fs

1 paper

NM_000130.5

p.D164_P165insFs

c.492_493ins8

1 paper

NM_000130.5

p.P165H

c.494C>A

1 paper

NM_000130.5

p.D164E

c.492C>G

1 paper

NM_000130.5

p.D164E

c.492C>A

1 paper

NM_000130.5

p.N177S

c.530A>G