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.H508H

c.1524C>T

Surrounding Variants

1 paper

NM_001710.6

p.A525T

c.1573G>A

1 paper

NM_001710.6

p.H526_D531delFs

c.1577_1592del16

24 papers

NM_001710.6

p.K533R

c.1598A>G

1 paper

NM_001710.6

p.S536_I537delFs

c.1608_1609delAA

1 paper

NM_001710.6

p.I537insFs

c.1610_1611insAT

1 paper

NM_001710.6

p.S540R

c.1618A>C

1 paper

NM_001710.6

p.S540R

c.1620C>A

1 paper

NM_001710.6

p.S540R

c.1620C>G

2 papers

NM_001710.6

p.G542*

c.1624G>T

1 paper

NM_001710.6

p.G542Splc

c.1624+5G>T

1 paper

NM_001710.6

p.I502T

c.1505T>C

1 paper

NM_001710.6

p.W495C

c.1485G>C