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

22 papers

NM_000128.4

p.C56R

c.166T>C

Surrounding Variants

1 paper

NM_000128.4

p.C56delFs

c.167delG

2 papers

NM_000128.4

p.C56Y

c.167G>A

1 paper

NM_000128.4

p.R55K

c.164G>A

2 papers

NM_000128.4

p.C56*

c.168T>A

1 paper

NM_000128.4

p.C56W

c.168T>G

1 paper

NM_000128.4

p.L57*

c.170T>A

1 paper

NM_000128.4

p.L57F

c.171A>C

1 paper

NM_000128.4

p.L57F

c.171A>T

1 paper

NM_000128.4

p.P54S

c.160C>T

2 papers

NM_000128.4

p.H53Q

c.159C>A

3 papers

NM_000128.4

p.H53Y

c.157C>T

1 paper

NM_000128.4

p.F59Y

c.176T>A