Varaico: Literature-Extracted Genetic Variants

Gene:CNN1
Variant:p.A174S

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.A174S
c.520G>T
Surrounding Variants
1 paper
NM_001299.6
p.G178S
c.532G>A
1 paper
NM_001299.6
p.G169S
c.505G>A
1 paper
NM_001299.6
p.Q167_M168Splc
c.502-5C>T
1 paper
NM_001299.6
p.R185W
c.553C>T
1 paper
NM_001299.6
p.R186C
c.556C>T
1 paper
NM_001299.6
p.R186H
c.557G>A
NM_001308341.2
p.R136H
c.407G>A
1 paper
NM_001299.6
p.Q216del1
c.646_648delCAG
2 papers
NM_001299.6
p.A221V
c.662C>T
1 paper
NM_001299.6
p.F229L
c.685T>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.L245L
c.735G>C
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."