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.E1101fs

c.3301_3302fs

Surrounding Variants

1 paper

NM_000132.4

p.E1101*

c.3301G>T

4 papers

NM_000132.4

p.K1100insFs

c.3300dupA

1 paper

NM_000132.4

p.Q1098_K1099insFs

c.3294_3295insA

5 papers

NM_000132.4

p.Q1098*

c.3292C>T

1 paper

NM_000132.4

p.E1094_M1095del2

c.3280_3284del6

1 paper

NM_000132.4

p.V1096_Q1097insG

c.3286_3290ins3

1 paper

NM_000132.4

p.D1107A

c.3320A>C

1 paper

NM_000132.4

p.E1101_P1106insFs

c.3303_3318dup16

1 paper

NM_000132.4

p.D1107E

c.3321T>G

1 paper

NM_000132.4

p.D1107E

c.3321T>A

3 papers

NM_000132.4

p.Q1109*

c.3325C>T

1 paper

NM_000132.4

p.E1094*

c.3280G>T