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.K1381E

c.4141A>G

Surrounding Variants

1 paper

NM_000132.4

p.K1381*

c.4141A>T

1 paper

NM_000132.4

p.E1380*

c.4138G>T

3 papers

NM_000132.4

p.G1382G

c.4146G>T

1 paper

NM_000132.4

p.A1383fs

c.4147_4148fs

1 paper

NM_000132.4

p.A1383delFs

c.4147delC

1 paper

NM_000132.4

p.E1378*

c.4132G>T

1 paper

NM_000132.4

p.Y1376*

c.4128C>G

1 paper

NM_000132.4

p.Y1376*

c.4128C>A

1 paper

NM_000132.4

p.T1372_T1385insFs

c.4114_4154dup41

5 papers

NM_000132.4

p.Q1386*

c.4156C>T

1 paper

NM_000132.4

p.D1375E

c.4125C>G

4 papers

NM_000132.4

p.I1374_D1375delFs

c.4121_4124del4