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.S699A

c.2095T>G

Surrounding Variants

1 paper

NM_001710.6

p.Q713R

c.2138A>G

2 papers

NM_001710.6

p.S687fs

c.2059_2060fs

2 papers

NM_001710.6

p.G685_V686delFs

c.2054_2057del4

1 paper

NM_001710.6

p.C682R

c.2044T>C

1 paper

NM_001710.6

p.F680L

c.2040C>A

1 paper

NM_001710.6

p.F680L

c.2040C>G

1 paper

NM_001710.6

p.F680L

c.2038T>C

3 papers

NM_001710.6

p.R679W

c.2035C>T

1 paper

NM_001710.6

p.V675A

c.2024T>C

4 papers

NM_001710.6

p.K670E

c.2008A>G

1 paper

NM_001710.6

p.V669L

c.2005G>C

1 paper

NM_001710.6

p.Q713_V714Splc

c.2140-74A>G