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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_001710.6

p.M1K

c.2T>A

1 paper

NM_001710.6

p.G2insFs

c.5dupG

1 paper

NM_001710.6

p.L5L

c.15C>A

70 papers

NM_001710.6

p.L9H

c.26T>A

1 paper

NM_001710.6

p.I15F

c.43A>T

1 paper

NM_001710.6

p.L18insFs

c.53dupT

1 paper

NM_001710.6

p.S20F

c.59C>T

2 papers

NM_001710.6

p.G22Splc

c.65-1G>C

1 paper

NM_001710.6

p.T26A

c.76A>G

1 paper

NM_001710.6

p.T26N

c.77C>A

1 paper

NM_001710.6

p.P27S

c.79C>T

1 paper

NM_001710.6

p.P27L

c.80C>T