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.I421T

c.1262T>C

Surrounding Variants

1 paper

NM_000128.4

p.I421_G422insFs

c.1263_1264insC

2 papers

NM_000128.4

p.I420T

c.1259T>C

1 paper

NM_000128.4

p.I420F

c.1258A>T

1 paper

NM_000128.4

p.S419A

c.1255T>G

1 paper

NM_000128.4

p.Q424*

c.1270C>T

1 paper

NM_000128.4

p.Q424P

c.1271A>C

1 paper

NM_000128.4

p.G418D

c.1253G>A

1 paper

NM_000128.4

p.G418A

c.1253G>C

16 papers

NM_000128.4

p.G418V

c.1253G>T

2 papers

NM_000128.4

p.G418S

c.1252G>A

1 paper

NM_000128.4

p.Q424H

c.1272G>C

1 paper

NM_000128.4

p.W425R

c.1273T>A