Varaico: Literature-Extracted Genetic Variants

C2

3,085 papers

RefSeq Summary

Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with co...

Pfam Domains

Sushiaa 89–144UCSCSushi repeat (SCR repeat)

Sushiaa 151–204UCSCSushi repeat (SCR repeat)

VWAaa 254–451UCSCvon Willebrand factor type A domain

Trypsinaa 465–710UCSCTrypsin

Gene Aliases

HGNC Name

complement C2

HGNC Previous Name

complement component 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000063.6

p.C51S

c.151T>A

Surrounding Variants

1 paper

NM_000063.6

p.S50S

c.150C>A

1 paper

NM_000063.6

p.S50S

c.150C>T

1 paper

NM_000063.6

p.C51Y

c.152G>A

1 paper

NM_000063.6

p.P52delFs

c.156delC

1 paper

NM_000063.6

p.P52_Q53del1

c.155_157delCCC

1 paper

NM_000063.6

p.P52T

c.154C>A

1 paper

NM_000063.6

p.P52S

c.154C>T

2 papers

NM_000063.6

p.S50T

c.148T>A

2 papers

NM_000063.6

p.S50A

c.148T>G

1 paper

NM_000063.6

p.Y49*

c.147C>A

1 paper

NM_000063.6

p.Y49*

c.147C>G

1 paper

NM_000063.6

p.P52R

c.155C>G