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

25 papers

NM_001710.6

p.F286L

c.856T>C

Surrounding Variants

25 papers

NM_001710.6

p.F286L

c.858C>A

25 papers

NM_001710.6

p.F286L

c.858C>G

1 paper

NM_001710.6

p.F286F

c.858C>T

1 paper

NM_001710.6

p.S284N

c.851G>A

1 paper

NM_001710.6

p.K290_K291insFs

c.870_871insGT

1 paper

NM_001710.6

p.I281T

c.842T>C

1 paper

NM_001710.6

p.D279E

c.837C>A

1 paper

NM_001710.6

p.D279E

c.837C>G

13 papers

NM_001710.6

p.D279G

c.836A>G

4 papers

NM_001710.6

p.Q256*

c.766C>T

2 papers

NM_001710.6

p.G254R

c.760G>A

2 papers

NM_001710.6

p.G254R

c.760G>C