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.S127R

c.379A>C

Surrounding Variants

1 paper

NM_000128.4

p.S127N

c.380G>A

1 paper

NM_000128.4

p.S127R

c.381C>A

1 paper

NM_000128.4

p.N126delFs

c.377_378delAC

2 papers

NM_000128.4

p.Y125C

c.374A>G

1 paper

NM_000128.4

p.S128S

c.384A>T

1 paper

NM_000128.4

p.V129D

c.386T>A

1 paper

NM_000128.4

p.N124D

c.370A>G

1 paper

NM_000128.4

p.N124delFs

c.371delA

1 paper

NM_000128.4

p.I123V

c.367A>G

1 paper

NM_000128.4

p.K131M

c.392A>T

1 paper

NM_000128.4

p.G122G

c.366C>A

5 papers

NM_000128.4

p.G122D

c.365G>A