Varaico: Literature-Extracted Genetic Variants

CFB

494 papers

RefSeq Summary

This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternati...

Pfam Domains

Sushiaa 40–88UCSCSushi repeat (SCR repeat)

Sushiaa 103–158UCSCSushi repeat (SCR repeat)

Sushiaa 165–218UCSCSushi repeat (SCR repeat)

VWAaa 270–467UCSCvon Willebrand factor type A domain

Trypsinaa 483–752UCSCTrypsin

Gene Aliases

HGNC Name

complement factor B

HGNC Previous Symbols

BFD; BF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001710.6

p.Q88K

c.262C>A

Surrounding Variants

1 paper

NM_001710.6

p.D89E

c.267C>A

1 paper

NM_001710.6

p.L85_Q88del0

c.254_262del9

1 paper

NM_001710.6

p.S81P

c.241T>C

1 paper

NM_001710.6

p.G80A

c.239G>C

1 paper

NM_001710.6

p.C98Y

c.293G>A

1 paper

NM_001710.6

p.A100T

c.298G>A

1 paper

NM_001710.6

p.A100Splc

c.298+1G>C

2 papers

NM_001710.6

p.A100Splc

c.298+2T>G

10 papers

NM_001710.6

p.R74H

c.221G>A

1 paper

NM_001710.6

p.Y67H

c.199T>C

1 paper

NM_001710.6

p.S64P

c.190T>C

1 paper

NM_001710.6

p.P63S

c.187C>T