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.K312Fs

c.934_936delinsCFs

Surrounding Variants

1 paper

NM_000128.4

p.K312delins

c.936delinsC

1 paper

NM_000128.4

p.A311V

c.932C>T

2 papers

NM_000128.4

p.S313I

c.938G>T

1 paper

NM_000128.4

p.A310A

c.930T>C

1 paper

NM_000128.4

p.A310delFs

c.930delT

1 paper

NM_000128.4

p.E315_Q318del4

c.943_953del12

1 paper

NM_000128.4

p.V309G

c.926T>G

14 papers

NM_000128.4

p.E315K

c.943G>A

1 paper

NM_000128.4

p.V309I

c.925G>A

1 paper

NM_000128.4

p.I308V

c.922A>G

1 paper

NM_000128.4

p.I308F

c.922A>T

2 papers

NM_000128.4

p.A316S

c.946G>T