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

1–12 of 860 variants

62 papers

NM_000128.4

p.E135*

c.403G>T

43 papers

NM_000128.4

p.F301L

c.901T>C

34 papers

NM_000128.4

p.F301L

c.903C>A

34 papers

NM_000128.4

p.F301L

c.903C>G

22 papers

NM_000128.4

p.C56R

c.166T>C

22 papers

NM_000128.4

p.W519*

c.1556G>A

20 papers

NM_000128.4

p.Q281*

c.841C>T

18 papers

NM_000128.4

p.A109T

c.325G>A

16 papers

NM_000128.4

p.C416Y

c.1247G>A

16 papers

NM_000128.4

p.G418V

c.1253G>T

16 papers

NM_000128.4

p.W519*

c.1557G>A

15 papers

NM_000128.4

p.E565K

c.1693G>A