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.E1970G

c.5909A>G

Surrounding Variants

1 paper

NM_000132.4

p.E1970A

c.5909A>C

1 paper

NM_000132.4

p.N1971Y

c.5911A>T

1 paper

NM_000132.4

p.N1971H

c.5911A>C

1 paper

NM_000132.4

p.E1970del1

c.5908_5909delTTC

1 paper

NM_000132.4

p.N1971S

c.5912A>G

5 papers

NM_000132.4

p.N1971T

c.5912A>C

2 papers

NM_000132.4

p.S1968R

c.5904C>G

3 papers

NM_000132.4

p.S1968R

c.5904C>A

2 papers

NM_000132.4

p.S1968R

c.5902A>C

1 paper

NM_000132.4

p.G1967D

c.5900G>A

4 papers

NM_000132.4

p.H1973L

c.5918A>T

3 papers

NM_000132.4

p.H1973R

c.5918A>G