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

2 papers

NM_000128.4

p.A109Splc

c.325+5G>T

Surrounding Variants

8 papers

NM_000128.4

p.A109Splc

c.325+1G>A

18 papers

NM_000128.4

p.A109T

c.325G>A

1 paper

NM_000128.4

p.I107L

c.319A>T

1 paper

NM_000128.4

p.Q106R

c.317A>G

2 papers

NM_000128.4

p.Q106E

c.316C>G

8 papers

NM_000128.4

p.Q106*

c.316C>T

1 paper

NM_000128.4

p.H105R

c.314A>G

1 paper

NM_000128.4

p.C103R

c.307T>C

2 papers

NM_000128.4

p.Q102*

c.304C>T

2 papers

NM_000128.4

p.K101R

c.302A>G

1 paper

NM_000128.4

p.K101_Q102delFs

c.303_304delGC

3 papers

NM_000128.4

p.K101_C103insFs

c.301_307dup7