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

6 papers

NM_000128.4

p.R326C

c.976C>T

Surrounding Variants

6 papers

NM_000128.4

p.R326H

c.977G>A

4 papers

NM_000128.4

p.V325F

c.973G>T

1 paper

NM_000128.4

p.C327Y

c.980G>A

3 papers

NM_000128.4

p.C327*

c.981C>A

1 paper

NM_000128.4

p.A324_F329del0

c.971_985del15

1 paper

NM_000128.4

p.N323D

c.967A>G

6 papers

NM_000128.4

p.T322I

c.965C>T

1 paper

NM_000128.4

p.F330C

c.989T>G

3 papers

NM_000128.4

p.C321S

c.962G>C

5 papers

NM_000128.4

p.C321F

c.962G>T

1 paper

NM_000128.4

p.T331A

c.991A>G

3 papers

NM_000128.4

p.C321S

c.961T>A