Varaico: Literature-Extracted Genetic Variants

Gene:CNN1
Variant:p.L166del1

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
1 paper
NM_001299.6
p.L166del1
c.496_498delCTG
Surrounding Variants
1 paper
NM_001299.6
p.Q167*
c.499C>T
1 paper
NM_001299.6
p.K156T
c.467A>C
1 paper
NM_001299.6
p.R150R
c.450G>A
1 paper
NM_001299.6
p.A145S
c.433G>T
1 paper
NM_001299.6
p.G141R
c.421G>A
1 paper
NM_001299.6
p.G141R
c.421G>C
1 paper
NM_001299.6
p.G99R
c.295G>A
1 paper
NM_001299.6
p.G99R
c.295G>C
1 paper
NM_001299.6
p.N90D
c.268A>G
1 paper
NM_001299.6
p.N87N
c.261C>T
1 paper
NM_001299.6
p.V72V
c.216G>A
1 paper
NM_001299.6
p.V72_K73insFs
c.216_217insA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."