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.G2000S

c.5998G>A

Surrounding Variants

2 papers

NM_000132.4

p.P1999del1

c.5995_5996delTGG

5 papers

NM_000132.4

p.G2000Splc

c.5998+1G>A

3 papers

NM_000132.4

p.P1999L

c.5996C>T

1 paper

NM_000132.4

p.P1999R

c.5996C>G

1 paper

NM_000132.4

p.G2000Splc

c.5998+3A>T

1 paper

NM_000132.4

p.G2000Splc

c.5998+3A>C

3 papers

NM_000132.4

p.Y1998C

c.5993A>G

4 papers

NM_000132.4

p.Y1998S

c.5993A>C

1 paper

NM_000132.4

p.L1997H

c.5990T>A

3 papers

NM_000132.4

p.L1997F

c.5989C>T

1 paper

NM_000132.4

p.N1996insFs

c.5987_5988insA

1 paper

NM_000132.4

p.Y1995*

c.5985C>G