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.L813_S816delFs

c.2438_2448del11

Surrounding Variants

1 paper

NM_000132.4

p.P817fs

c.2449_2450fs

1 paper

NM_000132.4

p.P817P

c.2451T>A

1 paper

NM_000132.4

p.S816N

c.2447G>A

2 papers

NM_000132.4

p.Q815insFs

c.2444dupA

1 paper

NM_000132.4

p.T818I

c.2453C>T

4 papers

NM_000132.4

p.Q815*

c.2443C>T

1 paper

NM_000132.4

p.R814P

c.2441G>C

1 paper

NM_000132.4

p.R814Q

c.2441G>A

25 papers

NM_000132.4

p.R814*

c.2440C>T

1 paper

NM_000132.4

p.L813L

c.2437T>C

1 paper

NM_000132.4

p.L812fs

c.2434_2435fs

1 paper

NM_000132.4

p.L812L

c.2436C>A