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

3 papers

NM_000128.4

p.G303delFs

c.908delG

Surrounding Variants

1 paper

NM_000128.4

p.G303_E304del2

c.907_911del6

34 papers

NM_000128.4

p.F301L

c.903C>A

34 papers

NM_000128.4

p.F301L

c.903C>G

1 paper

NM_000128.4

p.G303R

c.907G>A

1 paper

NM_000128.4

p.G303fs

c.907_908fs

1 paper

NM_000128.4

p.G303fs

c.907_908fs

1 paper

NM_000128.4

p.F301S

c.902T>C

43 papers

NM_000128.4

p.F301L

c.901T>C

2 papers

NM_000128.4

p.E305K

c.913G>A

1 paper

NM_000128.4

p.T299T

c.897T>C

1 paper

NM_000128.4

p.T299S

c.896C>G

1 paper

NM_000128.4

p.T299S

c.895A>T