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

3 papers

NM_000128.4

p.Q47H

c.141G>T

Surrounding Variants

1 paper

NM_000128.4

p.Q47Q

c.141G>A

4 papers

NM_000128.4

p.Q47H

c.141G>C

1 paper

NM_000128.4

p.Q47P

c.140A>C

3 papers

NM_000128.4

p.C46*

c.138C>A

2 papers

NM_000128.4

p.C46F

c.137G>T

1 paper

NM_000128.4

p.V49_C50insFs

c.147_148insAT

1 paper

NM_000128.4

p.Y45F

c.134A>T

1 paper

NM_000128.4

p.C50S

c.149G>C

1 paper

NM_000128.4

p.Y45N

c.133T>A

1 paper

NM_000128.4

p.K44N

c.132G>T

6 papers

NM_000128.4

p.T51P

c.151A>C

4 papers

NM_000128.4

p.T51I

c.152C>T