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.C20R

c.58T>C

Surrounding Variants

1 paper

NM_000128.4

p.C20S

c.58T>A

1 paper

NM_000128.4

p.C20S

c.59G>C

1 paper

NM_000128.4

p.E19V

c.56A>T

1 paper

NM_000128.4

p.E19fs

c.55_56fs

1 paper

NM_000128.4

p.E19Splc

c.56-1G>A

1 paper

NM_000128.4

p.V21M

c.61G>A

4 papers

NM_000128.4

p.Q23*

c.67C>T

1 paper

NM_000128.4

p.L25_C29delFs

c.73_86del14

1 paper

NM_000128.4

p.K26_D27del1

c.78_80delGGA

1 paper

NM_000128.4

p.D27N

c.79G>A

1 paper

NM_000128.4

p.D27delFs

c.81delC

1 paper

NM_000128.4

p.T28A

c.82A>G