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

5 papers

NM_000128.4

p.S266N

c.797G>A

Surrounding Variants

1 paper

NM_000128.4

p.T267I

c.800C>T

7 papers

NM_000128.4

p.T267T

c.801A>G

1 paper

NM_000128.4

p.P265S

c.793C>T

11 papers

NM_000128.4

p.R268C

c.802C>T

4 papers

NM_000128.4

p.R268H

c.803G>A

1 paper

NM_000128.4

p.L264L

c.790T>C

2 papers

NM_000128.4

p.G263E

c.788G>A

1 paper

NM_000128.4

p.G263R

c.787G>A

1 paper

NM_000128.4

p.G263R

c.787G>C

2 papers

NM_000128.4

p.G263*

c.787G>T

6 papers

NM_000128.4

p.K270I

c.809A>T

2 papers

NM_000128.4

p.E261D

c.783G>C