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

3 papers

NM_000132.4

p.H2174R

c.6521A>G

Surrounding Variants

1 paper

NM_000132.4

p.H2174L

c.6521A>T

1 paper

NM_000132.4

p.H2174P

c.6521A>C

3 papers

NM_000132.4

p.H2174Y

c.6520C>T

4 papers

NM_000132.4

p.H2174D

c.6520C>G

1 paper

NM_000132.4

p.Y2175fs

c.6523_6524fs

2 papers

NM_000132.4

p.T2173I

c.6518C>T

4 papers

NM_000132.4

p.T2173N

c.6518C>A

1 paper

NM_000132.4

p.Y2175*

c.6525T>G

1 paper

NM_000132.4

p.Y2175*

c.6525T>A

3 papers

NM_000132.4

p.T2173A

c.6517A>G

2 papers

NM_000132.4

p.S2176R

c.6526A>C

2 papers

NM_000132.4

p.P2172L

c.6515C>T