Varaico: Literature-Extracted Genetic Variants

CFHR3

151 papers

RefSeq Summary

The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in...

Pfam Domains

Sushiaa 23–83UCSCSushi repeat (SCR repeat)

Sushiaa 87–140UCSCSushi repeat (SCR repeat)

Sushiaa 146–203UCSCSushi repeat (SCR repeat)

Sushiaa 210–264UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement factor H related 3

HGNC Previous Symbol

CFHL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021023.6

p.V318M

c.952G>A

Surrounding Variants

1 paper

NM_021023.6

p.V324A

c.971T>C

1 paper

NM_021023.6

p.G305E

c.914G>A

1 paper

NM_021023.6

p.K293R

c.878A>G

1 paper

NM_021023.6

p.K293E

c.877A>G

1 paper

NM_021023.6

p.A292fs

c.874_875fs

1 paper

NM_021023.6

p.K289K

c.867A>G

1 paper

NM_021023.6

p.K283R

c.848A>G

1 paper

NM_021023.6

p.K283Q

c.847A>C

1 paper

NM_021023.6

p.I280fs

c.838_839fs

3 papers

NM_021023.6

p.I280fs

c.838_839fs

6 papers

NM_021023.6

p.I280delFs

c.839_840delTA

1 paper

NM_021023.6

p.I269V

c.805A>G