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

18 papers

NM_000132.4

p.R1960Q

c.5879G>A

Surrounding Variants

2 papers

NM_000132.4

p.R1960L

c.5879G>T

3 papers

NM_000132.4

p.R1960P

c.5879G>C

12 papers

NM_000132.4

p.R1960*

c.5878C>T

2 papers

NM_000132.4

p.R1960G

c.5878C>G

5 papers

NM_000132.4

p.W1961R

c.5881T>C

6 papers

NM_000132.4

p.W1961R

c.5881T>A

6 papers

NM_000132.4

p.W1961*

c.5882G>A

4 papers

NM_000132.4

p.W1961*

c.5883G>A

1 paper

NM_000132.4

p.I1959F

c.5875A>T

3 papers

NM_000132.4

p.Y1962D

c.5884T>G

1 paper

NM_000132.4

p.Y1962fs

c.5884_5885fs

2 papers

NM_000132.4

p.Y1962C

c.5885A>G