Varaico: Literature-Extracted Genetic Variants

Gene:CNN1
Variant:p.E280Q

CNN1

50 papers

Pfam Domains

CHaa 1–83UCSCCalponin homology (CH) domain
Calponinaa 114–138UCSCCalponin family repeat
Calponinaa 154–178UCSCCalponin family repeat
Calponinaa 193–217UCSCCalponin family repeat

Gene Aliases

HGNC Name

calponin 1

HGNC Alias Symbols

SMCC; Sm-Calp

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001299.6
p.E280Q
c.838G>C
Surrounding Variants
1 paper
NM_001299.6
p.P270insFs
c.810dupC
1 paper
NM_001299.6
p.P264Q
c.791C>A
1 paper
NM_001299.6
p.Q255R
c.764A>G
1 paper
NM_001299.6
p.S254L
c.761C>T
1 paper
NM_001299.6
p.L245L
c.735G>C
1 paper
NM_001299.6
p.F229L
c.687C>A
1 paper
NM_001299.6
p.F229L
c.687C>G
1 paper
NM_001299.6
p.F229L
c.685T>C
2 papers
NM_001299.6
p.A221V
c.662C>T
1 paper
NM_001299.6
p.Q216del1
c.646_648delCAG
1 paper
NM_001299.6
p.R186H
c.557G>A
NM_001308341.2
p.R136H
c.407G>A
1 paper
NM_001299.6
p.R186C
c.556C>T
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