Varaico: Literature-Extracted Genetic Variants

CD46

871 papers

RefSeq Summary

The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b...

Pfam Domains

Sushiaa 35–94UCSCSushi repeat (SCR repeat)

Sushiaa 99–157UCSCSushi repeat (SCR repeat)

Sushiaa 162–223UCSCSushi repeat (SCR repeat)

Sushiaa 228–283UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

CD46 molecule

HGNC Previous Symbols

MIC10; MCP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172351.3

p.W150*

c.450G>A

Surrounding Variants

3 papers

NM_172351.3

p.S151S

c.453C>T

1 paper

NM_172351.3

p.G152S

c.454G>A

1 paper

NM_172351.3

p.G152D

c.455G>A

1 paper

NM_172351.3

p.K153R

c.458A>G

1 paper

NM_172351.3

p.A148Fs

c.442_444delinsAFs

1 paper

NM_172351.3

p.P155L

c.464C>T

2 papers

NM_172351.3

p.K144I

c.431A>T

2 papers

NM_172351.3

p.C157R

c.469T>C

2 papers

NM_172351.3

p.C157Y

c.470G>A

1 paper

NM_172351.3

p.E158Q

c.472G>C

1 paper

NM_172351.3

p.E158*

c.472G>T

1 paper

NM_172351.3

p.E142Fs

c.426delinsATFs