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

9 papers

NM_000128.4

p.H145R

c.434A>G

Surrounding Variants

1 paper

NM_000128.4

p.C146R

c.436T>C

8 papers

NM_000128.4

p.C146*

c.438C>A

1 paper

NM_000128.4

p.V144I

c.430G>A

1 paper

NM_000128.4

p.D143_V144insFs

c.429_430ins5

4 papers

NM_000128.4

p.D143D

c.429C>T

2 papers

NM_000128.4

p.D143A

c.428A>C

2 papers

NM_000128.4

p.D143N

c.427G>A

1 paper

NM_000128.4

p.D142G

c.425A>G

1 paper

NM_000128.4

p.D142N

c.424G>A

1 paper

NM_000128.4

p.T141T

c.423G>A

1 paper

NM_000128.4

p.T141K

c.422C>A

7 papers

NM_000128.4

p.T141M

c.422C>T