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.L481delFs

c.1441delA

Surrounding Variants

1 paper

NM_000132.4

p.L481F

c.1443G>T

1 paper

NM_000132.4

p.L481F

c.1443G>C

1 paper

NM_000132.4

p.L481L

c.1443G>A

1 paper

NM_000132.4

p.L481*

c.1442T>A

1 paper

NM_000132.4

p.L481_I482Splc

c.1443+1G>T

1 paper

NM_000132.4

p.L481_I482insFs

c.1443_1444ins28

5 papers

NM_000132.4

p.L481_I482Splc

c.1443+1G>C

2 papers

NM_000132.4

p.L481_I482Splc

c.1443+1G>A

1 paper

NM_000132.4

p.L481insFs

c.1441_1442insA

3 papers

NM_000132.4

p.L481_I482Splc

c.1443+2T>C

3 papers

NM_000132.4

p.L480P

c.1439T>C

2 papers

NM_000132.4

p.L481_I482Splc

c.1443+5G>C