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.S279C

c.835A>T

Surrounding Variants

1 paper

NM_000128.4

p.G277G

c.831T>G

2 papers

NM_000128.4

p.G277D

c.830G>A

20 papers

NM_000128.4

p.Q281*

c.841C>T

1 paper

NM_000128.4

p.G277S

c.829G>A

1 paper

NM_000128.4

p.S276S

c.828T>C

1 paper

NM_000128.4

p.S276C

c.827C>G

1 paper

NM_000128.4

p.S282G

c.844A>G

1 paper

NM_000128.4

p.L275F

c.823C>T

1 paper

NM_000128.4

p.A274_S276delFs

c.820_826del7

1 paper

NM_000128.4

p.R284S

c.852G>C

1 paper

NM_000128.4

p.H285D

c.853C>G

1 paper

NM_000128.4

p.H285L

c.854A>T