Varaico: Literature-Extracted Genetic Variants

CR1

1,062 papers

RefSeq Summary

This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific sp...

Pfam Domains

Sushiaa 43–99UCSCSushi repeat (SCR repeat)

Sushiaa 104–161UCSCSushi repeat (SCR repeat)

Sushiaa 166–232UCSCSushi repeat (SCR repeat)

Sushiaa 238–293UCSCSushi repeat (SCR repeat)

Sushiaa 297–353UCSCSushi repeat (SCR repeat)

Sushiaa 359–416UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement C3b/C4b receptor 1

HGNC Alias Symbols

CD35; KN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_000651.6

p.P301S

c.901C>T

Surrounding Variants

6 papers

NM_000651.6

p.P301L

c.902C>T

1 paper

NM_000651.6

p.D302N

c.904G>A

1 paper

NM_000651.6

p.P299S

c.895C>T

1 paper

NM_000651.6

p.L304L

c.912G>T

1 paper

NM_000651.6

p.C297R

c.889T>C

1 paper

NM_000651.6

p.V296V

c.888A>T

1 paper

NM_000651.6

p.A306T

c.916G>A

1 paper

NM_000651.6

p.E307K

c.919G>A

2 papers

NM_000651.6

p.E307insFs

c.920_921insT

1 paper

NM_000651.6

p.R308C

c.922C>T

1 paper

NM_000651.6

p.R308H

c.923G>A

1 paper

NM_000651.6

p.P318S

c.952C>T