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.L86M

c.256C>A

Surrounding Variants

1 paper

NM_000128.4

p.P87T

c.259C>A

1 paper

NM_000128.4

p.P87S

c.259C>T

1 paper

NM_000128.4

p.E84D

c.252A>T

1 paper

NM_000128.4

p.E84insFs

c.250_251insGT

1 paper

NM_000128.4

p.R88insFs

c.264dupA

1 paper

NM_000128.4

p.T83I

c.248C>T

1 paper

NM_000128.4

p.N90T

c.269A>C

1 paper

NM_000128.4

p.N90S

c.269A>G

1 paper

NM_000128.4

p.S81I

c.242G>T

1 paper

NM_000128.4

p.T92_A93insAA

c.274_278ins6

1 paper

NM_000128.4

p.D80_V82ins1

c.239_244dup6

1 paper

NM_000128.4

p.K79N

c.237A>C