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.Q1666delFs

c.4998delT

Surrounding Variants

1 paper

NM_000132.4

p.Q1666insFs

c.4998dupA

2 papers

NM_000132.4

p.R1667Q

c.5000G>A

1 paper

NM_000132.4

p.R1667R

c.5001G>C

1 paper

NM_000132.4

p.Q1666fs

c.4996_4997fs

1 paper

NM_000132.4

p.I1669V

c.5005A>G

1 paper

NM_000132.4

p.R1664delFs

c.4991delC

1 paper

NM_000132.4

p.T1670fs

c.5008_5009fs

2 papers

NM_000132.4

p.R1671H

c.5012G>A

1 paper

NM_000132.4

p.T1670_R1671delFs

c.5008_5012del5

1 paper

NM_000132.4

p.T1672Fs

c.5016delinsGGFs

1 paper

NM_000132.4

p.T1673fs

c.5017_5018fs

5 papers

NM_000132.4

p.P1660L

c.4979C>T