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_019863.3

p.S17T

c.49T>A

Surrounding Variants

3 papers

NM_000132.4

p.S2152P

c.6454T>C

1 paper

NM_000132.4

p.S2151L

c.6452C>T

2 papers

NM_000132.4

p.S2151*

c.6452C>G

1 paper

NM_000132.4

p.S2151*

c.6452C>A

6 papers

NM_000132.4

p.D2150V

c.6449A>T

1 paper

NM_000132.4

p.D2150A

c.6449A>C

2 papers

NM_000132.4

p.D2150H

c.6448G>C

3 papers

NM_000132.4

p.D2150N

c.6448G>A

1 paper

NM_000132.4

p.V2149G

c.6446T>G

3 papers

NM_000132.4

p.K2155E

c.6463A>G

1 paper

NM_000132.4

p.K2155fs

c.6463_6464fs

1 paper

NM_000132.4

p.N2148delFs

c.6442delT