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.G1238D

c.3713G>A

Surrounding Variants

2 papers

NM_000132.4

p.H1234_T1235delFs

c.3702_3705del4

1 paper

NM_000132.4

p.N1241fs

c.3721_3722fs

1 paper

NM_000132.4

p.T1235delFs

c.3703delT

1 paper

NM_000132.4

p.K1240_N1241delFs

c.3720_3721delTC

1 paper

NM_000132.4

p.H1234Q

c.3702T>G

3 papers

NM_000132.4

p.H1234L

c.3701A>T

1 paper

NM_000132.4

p.I1233ins1

c.3698_3699insAGT

1 paper

NM_000132.4

p.L1230_Q1232del3

c.3688_3695del9

1 paper

NM_000132.4

p.Q1232*

c.3694C>T

1 paper

NM_000132.4

p.P1231delFs

c.3693delA

1 paper

NM_000132.4

p.P1231delFs

c.3691delG

1 paper

NM_000132.4

p.N1245fs

c.3733_3734fs