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

3 papers

NM_001710.6

p.V42A

c.125T>C

Surrounding Variants

1 paper

NM_001710.6

p.E43Q

c.127G>C

1 paper

NM_001710.6

p.K45fs

c.133_134fs

1 paper

NM_001710.6

p.G46D

c.137G>A

1 paper

NM_001710.6

p.Q34R

c.101A>G

109 papers

NM_001710.6

p.R32Q

c.95G>A

1 paper

NM_001710.6

p.R32L

c.95G>T

1 paper

NM_001710.6

p.R32G

c.94C>G

41 papers

NM_001710.6

p.R32W

c.94C>T

1 paper

NM_001710.6

p.R32delins

c.94_95delinsTA

1 paper

NM_001710.6

p.Q53*

c.157C>T

2 papers

NM_001710.6

p.G55C

c.163G>T

1 paper

NM_001710.6

p.W28C

c.84G>C