Varaico: Literature-Extracted Genetic Variants

Gene:RCAN1
Variant:p.I162T

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
Selected Variant
2 papers
NM_004414.7
p.I162T
c.485T>C
Surrounding Variants
1 paper
NM_004414.7
p.V170L
c.508G>T
1 paper
NM_004414.7
p.V170M
c.508G>A
1 paper
NM_004414.7
p.P154A
c.460C>G
1 paper
NM_004414.7
p.A152G
c.455C>G
1 paper
NM_004414.7
p.H150Y
c.448C>T
1 paper
NM_004414.7
p.S149A
c.445T>G
1 paper
NM_004414.7
p.K192K
c.576G>A
1 paper
NM_004414.7
p.K128E
c.382A>G
1 paper
NM_001285389.2
p.Q20K
c.58C>A
1 paper
NM_004414.7
p.E200A
c.599A>C
1 paper
NM_004414.7
p.V212A
c.635T>C
1 paper
NM_001285389.2
p.V132V
c.396C>T
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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."