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.R605Q

c.1814G>A

Surrounding Variants

1 paper

NM_001710.6

p.R605*

c.1813C>T

3 papers

NM_001710.6

p.E601K

c.1801G>A

1 paper

NM_001710.6

p.Q618E

c.1852C>G

1 paper

NM_001710.6

p.R593Splc

c.1778+8C>T

1 paper

NM_001710.6

p.I569L

c.1705A>C

34 papers

NM_001710.6

p.E566A

c.1697A>C

3 papers

NM_001710.6

p.E566G

c.1697A>G

8 papers

NM_001710.6

p.K565E

c.1693A>G

1 paper

NM_001710.6

p.N558S

c.1673A>G

3 papers

NM_001710.6

p.F632_V633delFs

c.1895_1898del4

1 paper

NM_001710.6

p.F632fs

c.1894_1895fs

1 paper

NM_001710.6

p.F632C

c.1895T>G