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

3 papers

NM_000132.4

p.E2184A

c.6551A>C

Surrounding Variants

1 paper

NM_000132.4

p.E2184G

c.6551A>G

1 paper

NM_000132.4

p.E2184*

c.6550G>T

3 papers

NM_000132.4

p.E2184K

c.6550G>A

1 paper

NM_000132.4

p.L2185W

c.6554T>G

1 paper

NM_000132.4

p.M2183R

c.6548T>G

3 papers

NM_000132.4

p.L2185S

c.6554T>C

1 paper

NM_000132.4

p.M2183_L2185delFs

c.6548_6554del7

2 papers

NM_000132.4

p.M2183fs

c.6547_6548fs

7 papers

NM_000132.4

p.M2183V

c.6547A>G

3 papers

NM_000132.4

p.M2186K

c.6557T>A

4 papers

NM_000132.4

p.R2182L

c.6545G>T

2 papers

NM_000132.4

p.R2182P

c.6545G>C