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.R525_D526delFs

c.1575_1576delAG

Surrounding Variants

1 paper

NM_000128.4

p.D526E

c.1578C>A

1 paper

NM_000128.4

p.D526E

c.1578C>G

1 paper

NM_000128.4

p.R522fs

c.1564_1565fs

1 paper

NM_000128.4

p.R522delFs

c.1565delG

6 papers

NM_000128.4

p.Y521C

c.1562A>G

1 paper

NM_000128.4

p.G520E

c.1559G>A

16 papers

NM_000128.4

p.W519*

c.1557G>A

4 papers

NM_000128.4

p.W519C

c.1557G>C

3 papers

NM_000128.4

p.W519C

c.1557G>T

22 papers

NM_000128.4

p.W519*

c.1556G>A

4 papers

NM_000128.4

p.W519S

c.1556G>C

5 papers

NM_000128.4

p.G520insFs

c.1560dupG