Varaico: Literature-Extracted Genetic Variants

Gene:CSMD1
Variant:p.S2992R

CSMD1

468 papers

Pfam Domains

CUBaa 32–137UCSCCUB domain
Sushiaa 145–202UCSCSushi repeat (SCR repeat)
CUBaa 208–309UCSCCUB domain
Sushiaa 349–406UCSCSushi repeat (SCR repeat)
CUBaa 411–519UCSCCUB domain
Sushiaa 527–580UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

CUB and Sushi multiple domains 1

HGNC Alias Symbols

KIAA1890; PPP1R24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033225.6
p.S2992R
c.8974A>C
Surrounding Variants
1 paper
NM_033225.6
p.S2992R
c.8976T>G
1 paper
NM_033225.6
p.S2992R
c.8976T>A
3 papers
NM_033225.6
p.G2987R
c.8959G>C
3 papers
NM_033225.6
p.G2987R
c.8959G>A
6 papers
NM_033225.6
p.G2979S
c.8935G>A
1 paper
NM_033225.6
p.C3005Y
c.9014G>A
2 papers
NM_033225.6
p.V2976M
c.8926G>A
1 paper
NM_033225.6
p.G3008V
c.9023G>T
1 paper
NM_033225.6
p.K3010N
c.9030G>T
1 paper
NM_033225.6
p.K3010N
c.9030G>C
1 paper
NM_033225.6
p.M3015I
c.9045G>T
1 paper
NM_033225.6
p.M3015I
c.9045G>C
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