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

2 papers

NM_000128.4

p.D307delFs

c.919delG

Surrounding Variants

1 paper

NM_000128.4

p.L306Q

c.917T>A

1 paper

NM_000128.4

p.L306P

c.917T>C

1 paper

NM_000128.4

p.L306M

c.916C>A

2 papers

NM_000128.4

p.D307N

c.919G>A

1 paper

NM_000128.4

p.D307Y

c.919G>T

2 papers

NM_000128.4

p.E305K

c.913G>A

1 paper

NM_000128.4

p.I308V

c.922A>G

1 paper

NM_000128.4

p.I308F

c.922A>T

1 paper

NM_000128.4

p.V309I

c.925G>A

1 paper

NM_000128.4

p.V309G

c.926T>G

1 paper

NM_000128.4

p.G303R

c.907G>A

1 paper

NM_000128.4

p.G303fs

c.907_908fs