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.S81I

c.242G>T

Surrounding Variants

1 paper

NM_000128.4

p.D80_V82ins1

c.239_244dup6

1 paper

NM_000128.4

p.K79N

c.237A>C

1 paper

NM_000128.4

p.K79N

c.237A>T

1 paper

NM_000128.4

p.T83I

c.248C>T

1 paper

NM_000128.4

p.E84insFs

c.250_251insGT

3 papers

NM_000128.4

p.L78P

c.233T>C

1 paper

NM_000128.4

p.E84D

c.252A>T

5 papers

NM_000128.4

p.V77V

c.231C>T

1 paper

NM_000128.4

p.V77A

c.230T>C

1 paper

NM_000128.4

p.V77I

c.229G>A

1 paper

NM_000128.4

p.L86M

c.256C>A

4 papers

NM_000128.4

p.C76Y

c.227G>A