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.K343Splc

c.1028+5G>T

Surrounding Variants

1 paper

NM_000128.4

p.K343Splc

c.1028+1G>T

3 papers

NM_000128.4

p.G342G

c.1026G>T

2 papers

NM_000128.4

p.G342insFs

c.1026dupG

1 paper

NM_000128.4

p.E341D

c.1023A>T

5 papers

NM_000128.4

p.E341K

c.1021G>A

1 paper

NM_000128.4

p.C339S

c.1016G>C

2 papers

NM_000128.4

p.C339F

c.1016G>T

1 paper

NM_000128.4

p.C339S

c.1015T>A

1 paper

NM_000128.4

p.S338delFs

c.1014delC

1 paper

NM_000128.4

p.A335T

c.1003G>A

1 paper

NM_000128.4

p.T331I

c.992C>T

1 paper

NM_000128.4

p.T331A

c.991A>G