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.S65A

c.193T>G

Surrounding Variants

1 paper

NM_000128.4

p.E64_S65insFs

c.192_193insG

1 paper

NM_000128.4

p.P66L

c.197C>T

1 paper

NM_000128.4

p.P66P

c.198A>T

1 paper

NM_000128.4

p.A63E

c.188C>A

1 paper

NM_000128.4

p.E64insFs

c.190dupG

1 paper

NM_000128.4

p.A63V

c.188C>T

1 paper

NM_000128.4

p.F61F

c.183C>T

1 paper

NM_000128.4

p.F61S

c.182T>C

1 paper

NM_000128.4

p.F61_P66insFs

c.183_196dup14

1 paper

NM_000128.4

p.P70L

c.209C>T

1 paper

NM_000128.4

p.F59Y

c.176T>A

1 paper

NM_000128.4

p.T71N

c.212C>A