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.C380Y

c.1139G>A

Surrounding Variants

1 paper

NM_000128.4

p.T381_T382insFs

c.1143_1144insC

1 paper

NM_000128.4

p.E379Splc

c.1136-1G>C

1 paper

NM_000128.4

p.K385_G391delFs

c.1154_1172del19

1 paper

NM_000128.4

p.P386H

c.1157C>A

1 paper

NM_000128.4

p.R387insFs

c.1160_1161insT

2 papers

NM_000128.4

p.V389I

c.1165G>A

3 papers

NM_000128.4

p.G390A

c.1169G>C

2 papers

NM_000128.4

p.G391R

c.1171G>A

1 paper

NM_000128.4

p.G391R

c.1171G>C

1 paper

NM_000128.4

p.G391A

c.1172G>C

2 papers

NM_000128.4

p.A393V

c.1178C>T

1 paper

NM_000128.4

p.S394A

c.1180T>G