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

4 papers

NM_000132.4

p.W2015*

c.6045G>A

Surrounding Variants

2 papers

NM_000132.4

p.W2015C

c.6045G>T

2 papers

NM_000132.4

p.W2015C

c.6045G>C

4 papers

NM_000132.4

p.W2015*

c.6044G>A

32 papers

NM_000132.4

p.R2016W

c.6046C>T

5 papers

NM_000132.4

p.R2016G

c.6046C>G

1 paper

NM_000132.4

p.G2013_W2015del3

c.6037_6044del9

4 papers

NM_000132.4

p.W2015R

c.6043T>C

3 papers

NM_000132.4

p.W2015R

c.6043T>A

3 papers

NM_000132.4

p.R2016L

c.6047G>T

5 papers

NM_000132.4

p.R2016P

c.6047G>C

5 papers

NM_000132.4

p.R2016Q

c.6047G>A

3 papers

NM_000132.4

p.V2017M

c.6049G>A