Varaico: Literature-Extracted Genetic Variants

Gene:RCAN1

RCAN1

37 papers

RefSeq Summary

The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the ...

Pfam Domains

Calcipressinaa 75–246UCSCCalcipressin
Calcipressinaa 101–271UCSCCalcipressin

Gene Aliases

HGNC Name

regulator of calcineurin 1

HGNC Previous Name

Down syndrome critical region gene 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
3 papers
NM_004414.7
p.A17_A20del0
c.51_59del9
3 papers
NM_004414.7
p.F51_V59del9
c.151_176del27
2 papers
NM_004414.7
p.I162T
c.485T>C
1 paper
NM_004414.7
p.G4S
c.10G>A
1 paper
NM_004414.7
p.G4G
c.12C>A
1 paper
NM_004414.7
p.A6P
c.16G>C
1 paper
NM_004414.7
p.A6_G7del1
c.18_20delCCG
1 paper
NM_004414.7
p.G11R
c.31G>C
1 paper
NM_004414.7
p.E18_A20del0
c.52_60del9
1 paper
NM_004414.7
p.A34E
c.101C>A
1 paper
NM_004414.7
p.S37S
c.111G>T
1 paper
NM_004414.7
p.A40T
c.118G>A
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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."