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.N542S

c.1625A>G

Surrounding Variants

3 papers

NM_000128.4

p.E543K

c.1627G>A

2 papers

NM_000128.4

p.V540G

c.1619T>G

1 paper

NM_000128.4

p.C545R

c.1633T>C

5 papers

NM_000128.4

p.C545Y

c.1634G>A

1 paper

NM_000128.4

p.P538H

c.1613C>A

12 papers

NM_000128.4

p.P538L

c.1613C>T

1 paper

NM_000128.4

p.I537T

c.1610T>C

6 papers

NM_000128.4

p.K536N

c.1608G>C

6 papers

NM_000128.4

p.K536N

c.1608G>T

2 papers

NM_000128.4

p.Y549H

c.1645T>C

1 paper

NM_000128.4

p.Y549C

c.1646A>G

1 paper

NM_000128.4

p.A535P

c.1603G>C