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.Q402H

c.1206G>C

Surrounding Variants

1 paper

NM_000128.4

p.Q402H

c.1206G>T

4 papers

NM_000128.4

p.V403M

c.1207G>A

1 paper

NM_000128.4

p.Q402*

c.1204C>T

1 paper

NM_000128.4

p.W401*

c.1203G>A

1 paper

NM_000128.4

p.W401*

c.1202G>A

3 papers

NM_000128.4

p.T404N

c.1211C>A

2 papers

NM_000128.4

p.W401R

c.1201T>C

6 papers

NM_000128.4

p.P400L

c.1199C>T

1 paper

NM_000128.4

p.L405Q

c.1214T>A

1 paper

NM_000128.4

p.P400_Q412del13

c.1198_1235del39

2 papers

NM_000128.4

p.H406P

c.1217A>C

1 paper

NM_000128.4

p.W399R

c.1195T>A