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.R437_I438del2

c.1309_1313del6

Surrounding Variants

2 papers

NM_000132.4

p.G439C

c.1315G>T

7 papers

NM_000132.4

p.G439S

c.1315G>A

3 papers

NM_000132.4

p.G439V

c.1316G>T

1 paper

NM_000132.4

p.G439A

c.1316G>C

2 papers

NM_000132.4

p.G439D

c.1316G>A

6 papers

NM_000132.4

p.I438T

c.1313T>C

4 papers

NM_000132.4

p.I438F

c.1312A>T

1 paper

NM_000132.4

p.R440G

c.1318A>G

4 papers

NM_000132.4

p.R437P

c.1310G>C

1 paper

NM_000132.4

p.R437Q

c.1310G>A

3 papers

NM_000132.4

p.R437W

c.1309C>T

1 paper

NM_000132.4

p.K441E

c.1321A>G