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.D506N

c.1516G>A

Surrounding Variants

2 papers

NM_000128.4

p.D506G

c.1517A>G

1 paper

NM_000128.4

p.K504E

c.1510A>G

1 paper

NM_000128.4

p.N508K

c.1524T>A

1 paper

NM_000128.4

p.N508K

c.1524T>G

1 paper

NM_000128.4

p.S503T

c.1507T>A

2 papers

NM_000128.4

p.S503P

c.1507T>C

1 paper

NM_000128.4

p.S503insFs

c.1508_1509insC

1 paper

NM_000128.4

p.P502L

c.1505C>T

2 papers

NM_000128.4

p.Y511H

c.1531T>C

6 papers

NM_000128.4

p.C500W

c.1500C>G

2 papers

NM_000128.4

p.C500S

c.1499G>C

2 papers

NM_000128.4

p.C500S

c.1498T>A