Varaico: Literature-Extracted Genetic Variants

F11

640 papers

RefSeq Summary

This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer c...

Pfam Domains

PAN_1aa 20–103UCSCPAN domain

PAN_1aa 110–157UCSCPAN domain

PAN_1aa 110–193UCSCPAN domain

PAN_1aa 200–283UCSCPAN domain

PAN_1aa 291–374UCSCPAN domain

Trypsinaa 388–618UCSCTrypsin

Gene Aliases

HGNC Name

coagulation factor XI

HGNC Alias Symbol

FXI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

62 papers

NM_000128.4

p.E135*

c.403G>T

Surrounding Variants

1 paper

NM_000128.4

p.E135K

c.403G>A

8 papers

NM_000128.4

p.Q134*

c.400C>T

1 paper

NM_000128.4

p.C136S

c.406T>A

3 papers

NM_000128.4

p.C136R

c.406T>C

1 paper

NM_000128.4

p.Q134_E138delFs

c.400_412del13

8 papers

NM_000128.4

p.C136*

c.408C>A

1 paper

NM_000128.4

p.A133V

c.398C>T

1 paper

NM_000128.4

p.S132C

c.394A>T

1 paper

NM_000128.4

p.K131M

c.392A>T

1 paper

NM_000128.4

p.R139G

c.415A>G

1 paper

NM_000128.4

p.C140S

c.418T>A

4 papers

NM_000128.4

p.C140Y

c.419G>A