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

6 papers

NM_000128.4

p.G397G

c.1191T>C

Surrounding Variants

1 paper

NM_000128.4

p.G397S

c.1189G>A

1 paper

NM_000128.4

p.R396H

c.1187G>A

1 paper

NM_000128.4

p.R396L

c.1187G>T

1 paper

NM_000128.4

p.W399R

c.1195T>A

1 paper

NM_000128.4

p.W399R

c.1195T>C

6 papers

NM_000128.4

p.R396C

c.1186C>T

1 paper

NM_000128.4

p.P400_Q412del13

c.1198_1235del39

6 papers

NM_000128.4

p.P400L

c.1199C>T

1 paper

NM_000128.4

p.V395I

c.1183G>A

2 papers

NM_000128.4

p.W401R

c.1201T>C

1 paper

NM_000128.4

p.W401*

c.1202G>A

1 paper

NM_000128.4

p.S394A

c.1180T>G