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

2 papers

NM_000132.4

p.S596F

c.1787C>T

Surrounding Variants

3 papers

NM_000132.4

p.S596P

c.1786T>C

1 paper

NM_000132.4

p.F595C

c.1784T>G

2 papers

NM_000132.4

p.F595S

c.1784T>C

1 paper

NM_000132.4

p.V597A

c.1790T>C

1 paper

NM_000132.4

p.F595_V597delFs

c.1783_1790del8

1 paper

NM_000132.4

p.L594P

c.1781T>C

3 papers

NM_000132.4

p.L594Q

c.1781T>A

1 paper

NM_000132.4

p.L594L

c.1780C>T

1 paper

NM_000132.4

p.D599Y

c.1795G>T

3 papers

NM_000132.4

p.D599H

c.1795G>C

1 paper

NM_000132.4

p.I593T

c.1778T>C

5 papers

NM_000132.4

p.I593N

c.1778T>A