Varaico: Literature-Extracted Genetic Variants

Gene:CALD1
Variant:p.H397R

CALD1

130 papers

RefSeq Summary

This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the ...

Pfam Domains

Caldesmonaa 31–297UCSCCaldesmon
Caldesmonaa 295–780UCSCCaldesmon

Gene Aliases

HGNC Name

caldesmon 1

HGNC Alias Symbols

CDM; H-CAD; L-CAD; h-CD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_033138.4
p.H397R
c.1190A>G
Surrounding Variants
1 paper
NM_033138.4
p.N389T
c.1166A>C
1 paper
NM_033138.4
p.G406W
c.1216G>T
1 paper
NM_033138.4
p.R372S
c.1116G>C
1 paper
NM_033138.4
p.R372S
c.1116G>T
1 paper
NM_033138.4
p.E361E
c.1083G>A
1 paper
NM_033138.4
p.K360K
c.1080A>G
1 paper
NM_033138.4
p.K346R
c.1037A>G
1 paper
NM_033138.4
p.R342M
c.1025G>T
1 paper
NM_033138.4
p.E340K
c.1018G>A
1 paper
NM_033138.4
p.E335D
c.1005G>C
1 paper
NM_033138.4
p.E335D
c.1005G>T
1 paper
NM_033138.4
p.R330K
c.989G>A
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