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.N340I

c.1019A>T

Surrounding Variants

1 paper

NM_001710.6

p.N340H

c.1018A>C

1 paper

NM_001710.6

p.N340Y

c.1018A>T

1 paper

NM_001710.6

p.I342T

c.1025T>C

3 papers

NM_001710.6

p.N331D

c.991A>G

3 papers

NM_001710.6

p.E326D

c.978A>C

3 papers

NM_001710.6

p.E326D

c.978A>T

1 paper

NM_001710.6

p.V324V

c.972G>C

1 paper

NM_001710.6

p.V324A

c.971T>C

10 papers

NM_001710.6

p.K323Q

c.967A>C

30 papers

NM_001710.6

p.K323E

c.967A>G

1 paper

NM_001710.6

p.V322I

c.964G>A

1 paper

NM_001710.6

p.I320M

c.960T>G