Varaico: Literature-Extracted Genetic Variants

CSMD2

213 papers

RefSeq Summary

The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as...

Pfam Domains

CUBaa 26–131UCSCCUB domain

Sushiaa 139–196UCSCSushi repeat (SCR repeat)

CUBaa 202–303UCSCCUB domain

Sushiaa 343–400UCSCSushi repeat (SCR repeat)

CUBaa 405–513UCSCCUB domain

Sushiaa 521–574UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

CUB and Sushi multiple domains 2

HGNC Alias Symbol

KIAA1884

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001281956.2

p.R2077K

c.6230G>A

Surrounding Variants

1 paper

NM_001281956.2

p.G2076E

c.6227G>A

4 papers

NM_001281956.2

p.R2106Q

c.6317G>A

1 paper

NM_001281956.2

p.K2110R

c.6329A>G

1 paper

NM_001281956.2

p.E2112*

c.6334G>T

1 paper

NM_001281956.2

p.A2115Splc

c.6343+19G>A

1 paper

NM_001281956.2

p.A2115Splc

c.6343+199C>T

1 paper

NM_001281956.2

p.S2030I

c.6089G>T

1 paper

NM_001281956.2

p.P2025S

c.6073C>T

1 paper

NM_001281956.2

p.M2015T

c.6044T>C

1 paper

NM_001281956.2

p.E2013K

c.6037G>A

2 papers

NM_001281956.2

p.A2115Splc

c.6344-455G>A

1 paper

NM_001281956.2

p.Y1999H

c.5995T>C