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.W425R

c.1273T>C

Surrounding Variants

1 paper

NM_000128.4

p.W425R

c.1273T>A

1 paper

NM_000128.4

p.Q424H

c.1272G>C

1 paper

NM_000128.4

p.W425_L427insFs

c.1275_1281dup7

1 paper

NM_000128.4

p.Q424P

c.1271A>C

3 papers

NM_000128.4

p.W425C

c.1275G>C

3 papers

NM_000128.4

p.W425C

c.1275G>T

1 paper

NM_000128.4

p.Q424*

c.1270C>T

3 papers

NM_000128.4

p.I426T

c.1277T>C

1 paper

NM_000128.4

p.I426insFs

c.1277_1278insC

1 paper

NM_000128.4

p.I426_L427insFs

c.1278_1279ins4

2 papers

NM_000128.4

p.T428I

c.1283C>T

1 paper

NM_000128.4

p.I421_G422insFs

c.1263_1264insC