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

1 paper

NM_000128.4

p.W515R

c.1543T>A

Surrounding Variants

1 paper

NM_000128.4

p.W515R

c.1543T>C

2 papers

NM_000128.4

p.W515G

c.1543T>G

1 paper

NM_000128.4

p.C514W

c.1542C>G

1 paper

NM_000128.4

p.W515C

c.1545G>C

2 papers

NM_000128.4

p.C514F

c.1541G>T

1 paper

NM_000128.4

p.W515C

c.1545G>T

9 papers

NM_000128.4

p.V516M

c.1546G>A

2 papers

NM_000128.4

p.C514R

c.1540T>C

1 paper

NM_000128.4

p.T517S

c.1550C>G

1 paper

NM_000128.4

p.G518E

c.1553G>A

2 papers

NM_000128.4

p.Y511H

c.1531T>C

5 papers

NM_000128.4

p.G520insFs

c.1560dupG