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

8 papers

NM_000132.4

p.L431F

c.1293G>T

Surrounding Variants

7 papers

NM_000132.4

p.L431F

c.1293G>C

2 papers

NM_000132.4

p.K427_L431del0

c.1281_1292del12

5 papers

NM_000132.4

p.L431S

c.1292T>C

1 paper

NM_000132.4

p.L431del1

c.1291_1292delCAA

1 paper

NM_000132.4

p.L431L

c.1291T>C

1 paper

NM_000132.4

p.Y430*

c.1290T>G

1 paper

NM_000132.4

p.Y430*

c.1290T>A

2 papers

NM_000132.4

p.N432delFs

c.1295delT

3 papers

NM_000132.4

p.N433T

c.1298A>C

1 paper

NM_000132.4

p.G434S

c.1300G>A

1 paper

NM_000132.4

p.Q429R

c.1286A>G

4 papers

NM_000132.4

p.G434D

c.1301G>A