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.Q1955E

c.5863C>G

Surrounding Variants

1 paper

NM_000132.4

p.Q1955*

c.5863C>T

1 paper

NM_000132.4

p.D1956N

c.5866G>A

1 paper

NM_000132.4

p.Q1957*

c.5869C>T

6 papers

NM_000132.4

p.L1951F

c.5853A>T

4 papers

NM_000132.4

p.L1951F

c.5853A>C

1 paper

NM_000132.4

p.L1951S

c.5852T>C

1 paper

NM_000132.4

p.I1959F

c.5875A>T

1 paper

NM_000132.4

p.G1950D

c.5849G>A

12 papers

NM_000132.4

p.R1960*

c.5878C>T

2 papers

NM_000132.4

p.R1960G

c.5878C>G

2 papers

NM_000132.4

p.R1960L

c.5879G>T

3 papers

NM_000132.4

p.R1960P

c.5879G>C