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.W1836R

c.5506T>C

Surrounding Variants

2 papers

NM_000132.4

p.W1836R

c.5506T>A

1 paper

NM_000132.4

p.W1836fs

c.5506_5507fs

3 papers

NM_000132.4

p.W1836*

c.5507G>A

5 papers

NM_000132.4

p.W1836*

c.5508G>A

1 paper

NM_000132.4

p.Y1834delFs

c.5502delG

2 papers

NM_000132.4

p.K1837*

c.5509A>T

1 paper

NM_000132.4

p.K1837Fs

c.5509delinsTGCAACATCATATGGCAACATCATATFs

1 paper

NM_000132.4

p.K1837E

c.5509A>G

1 paper

NM_000132.4

p.K1837fs

c.5509_5510fs

4 papers

NM_000132.4

p.Y1834insFs

c.5501_5502insA

4 papers

NM_000132.4

p.Y1834C

c.5501A>G

1 paper

NM_000132.4

p.Y1834D

c.5500T>G