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.S221Y

c.662C>A

Surrounding Variants

1 paper

NM_001710.6

p.D220Splc

c.659-1G>A

1 paper

NM_001710.6

p.T226I

c.677C>T

1 paper

NM_001710.6

p.V230M

c.688G>A

23 papers

NM_001710.6

p.I242L

c.724A>C

21 papers

NM_001710.6

p.I242L

c.724A>T

1 paper

NM_001710.6

p.E243_G244delFs

c.728_731del4

1 paper

NM_001710.6

p.V245A

c.734T>C

1 paper

NM_001710.6

p.A247D

c.740C>A

1 paper

NM_001710.6

p.E248G

c.743A>G

1 paper

NM_001710.6

p.D249N

c.745G>A

1 paper

NM_001710.6

p.G250E

c.749G>A

16 papers

NM_001710.6

p.G252S

c.754G>A