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.T150K

c.449C>A

Surrounding Variants

6 papers

NM_000128.4

p.T150M

c.449C>T

3 papers

NM_000128.4

p.Y151S

c.452A>C

3 papers

NM_000128.4

p.Y151C

c.452A>G

1 paper

NM_000128.4

p.F149_Y151delFs

c.447_453del7

1 paper

NM_000128.4

p.Y151Y

c.453C>T

1 paper

NM_000128.4

p.A152T

c.454G>A

3 papers

NM_000128.4

p.A152P

c.454G>C

8 papers

NM_000128.4

p.C146*

c.438C>A

1 paper

NM_000128.4

p.C146R

c.436T>C

2 papers

NM_000128.4

p.Q155*

c.463C>T

1 paper

NM_000128.4

p.Q155insFs

c.464_465ins4

9 papers

NM_000128.4

p.H145R

c.434A>G