Varaico: Literature-Extracted Genetic Variants

CD55

296 papers

RefSeq Summary

This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and...

Pfam Domains

Sushiaa 36–94UCSCSushi repeat (SCR repeat)

Sushiaa 98–158UCSCSushi repeat (SCR repeat)

Sushiaa 163–220UCSCSushi repeat (SCR repeat)

Sushiaa 225–283UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

CD55 molecule

HGNC Previous Symbol

DAF

Papers

RefSeq ID

Protein change

DNA change

1–12 of 252 variants

8 papers

NM_000574.5

p.S199L

c.596C>T

8 papers

NM_000574.5

p.A227P

c.679G>C

7 papers

NM_000574.5

p.R52L

c.155G>T

6 papers

NM_000574.5

p.L82R

c.245T>G

5 papers

NM_000574.5

p.T123insFs

c.367dupA

5 papers

NM_000574.5

p.T250M

c.749C>T

4 papers

NM_000574.5

p.P216L

c.647C>T

4 papers

NM_000574.5

p.R240H

c.719G>A

4 papers

NM_000574.5

p.C267S

c.799T>A

4 papers

NM_000574.5

p.C267S

c.800G>C

4 papers

NM_000574.5

p.V333I

c.997G>A

3 papers

NM_000574.5

p.R52C

c.154C>T