Varaico: Literature-Extracted Genetic Variants

F9

1,422 papers

RefSeq Summary

This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation ...

Pfam Domains

Glaaa 52–92UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

EGFaa 97–127UCSCEGF-like domain

FXa_inhibitionaa 134–170UCSCCoagulation Factor Xa inhibitory site

Trypsinaa 227–454UCSCTrypsin

Gene Aliases

HGNC Name

coagulation factor IX

HGNC Alias Symbol

FIX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000133.4

p.A192del1

c.574_576delGCT

Surrounding Variants

18 papers

NM_000133.4

p.R191H

c.572G>A

3 papers

NM_000133.4

p.R191P

c.572G>C

3 papers

NM_000133.4

p.R191L

c.572G>T

2 papers

NM_000133.4

p.R191S

c.571C>A

18 papers

NM_000133.4

p.R191C

c.571C>T

2 papers

NM_000133.4

p.A192P

c.574G>C

1 paper

NM_000133.4

p.A192fs

c.574_575fs

1 paper

NM_000133.4

p.A192delFs

c.575delC

1 paper

NM_000133.4

p.T190N

c.569C>A

2 papers

NM_000133.4

p.A192G

c.575C>G

1 paper

NM_000133.4

p.T190fs

c.568_569fs

1 paper

NM_000133.4

p.E193K

c.577G>A