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.L320P

c.959T>C

Surrounding Variants

5 papers

NM_000128.4

p.C321delFs

c.961_962delTG

3 papers

NM_000128.4

p.C321S

c.961T>A

1 paper

NM_000128.4

p.C321R

c.961T>C

1 paper

NM_000128.4

p.C321fs

c.961_962fs

1 paper

NM_000128.4

p.C321delFs

c.962delG

3 papers

NM_000128.4

p.C321fs

c.961_962fs

3 papers

NM_000128.4

p.C321S

c.962G>C

5 papers

NM_000128.4

p.C321F

c.962G>T

6 papers

NM_000128.4

p.T322I

c.965C>T

1 paper

NM_000128.4

p.N323D

c.967A>G

1 paper

NM_000128.4

p.C317C

c.951C>T

1 paper

NM_000128.4

p.A324_F329del0

c.971_985del15