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

2 papers

NM_001710.6

p.D651E

c.1953T>A

Surrounding Variants

2 papers

NM_001710.6

p.D651E

c.1953T>G

1 paper

NM_001710.6

p.K652K

c.1956G>A

2 papers

NM_001710.6

p.G650V

c.1949G>T

1 paper

NM_001710.6

p.I647fs

c.1939_1940fs

2 papers

NM_001710.6

p.Y646insFs

c.1938dupC

1 paper

NM_001710.6

p.S634Y

c.1901C>A

1 paper

NM_001710.6

p.F632C

c.1895T>G

1 paper

NM_001710.6

p.F632fs

c.1894_1895fs

3 papers

NM_001710.6

p.F632_V633delFs

c.1895_1898del4

1 paper

NM_001710.6

p.V669L

c.2005G>C

4 papers

NM_001710.6

p.K670E

c.2008A>G

1 paper

NM_001710.6

p.V675A

c.2024T>C