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.C62Y

c.185G>A

Surrounding Variants

1 paper

NM_001710.6

p.C62F

c.185G>T

1 paper

NM_001710.6

p.P63S

c.187C>T

1 paper

NM_001710.6

p.S64P

c.190T>C

1 paper

NM_001710.6

p.E59*

c.175G>T

1 paper

NM_001710.6

p.L58delFs

c.174delG

1 paper

NM_001710.6

p.Y67H

c.199T>C

2 papers

NM_001710.6

p.G55C

c.163G>T

1 paper

NM_001710.6

p.Q53*

c.157C>T

10 papers

NM_001710.6

p.R74H

c.221G>A

1 paper

NM_001710.6

p.G46D

c.137G>A

1 paper

NM_001710.6

p.K45fs

c.133_134fs

1 paper

NM_001710.6

p.G80A

c.239G>C