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

1–12 of 225 variants

109 papers

NM_001710.6

p.R32Q

c.95G>A

70 papers

NM_001710.6

p.L9H

c.26T>A

41 papers

NM_001710.6

p.R32W

c.94C>T

34 papers

NM_001710.6

p.E566A

c.1697A>C

30 papers

NM_001710.6

p.K323E

c.967A>G

25 papers

NM_001710.6

p.F286L

c.856T>C

25 papers

NM_001710.6

p.F286L

c.858C>A

25 papers

NM_001710.6

p.F286L

c.858C>G

24 papers

NM_001710.6

p.K533R

c.1598A>G

23 papers

NM_001710.6

p.I242L

c.724A>C

21 papers

NM_001710.6

p.I242L

c.724A>T

16 papers

NM_001710.6

p.G252S

c.754G>A