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.K572K

c.1716G>A

Surrounding Variants

12 papers

NM_000128.4

p.K572_G573Splc

c.1716+1G>A

1 paper

NM_000128.4

p.C571Y

c.1712G>A

2 papers

NM_000128.4

p.C571S

c.1712G>C

1 paper

NM_000128.4

p.C571S

c.1711T>A

1 paper

NM_000128.4

p.D569D

c.1707C>T

15 papers

NM_000128.4

p.E565K

c.1693G>A

5 papers

NM_000128.4

p.R564K

c.1691G>A

2 papers

NM_000128.4

p.G562S

c.1684G>A

3 papers

NM_000128.4

p.A561D

c.1682C>A

1 paper

NM_000128.4

p.C560Y

c.1679G>A

1 paper

NM_000128.4

p.C560F

c.1679G>T

1 paper

NM_000128.4

p.K557E

c.1669A>G