Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.S2201F

CABIN1

282 papers

RefSeq Summary

Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits c...

Pfam Domains

MEF2_bindingaa 2156–2190UCSCMEF2 binding

Gene Aliases

HGNC Name

calcineurin binding protein 1

HGNC Alias Symbols

KIAA0330; PPP3IN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012295.4
p.S2201F
c.6602C>T
Surrounding Variants
3 papers
NM_001201429.2
p.D2162E
c.6486C>A
NM_012295.4
p.D2212E
c.6636C>A
3 papers
NM_001201429.2
p.D2162E
c.6486C>G
NM_012295.4
p.D2212E
c.6636C>G
2 papers
NM_012295.4
p.V2185M
c.6553G>A
2 papers
NM_012295.4
p.G2162G
c.6486C>G
1 paper
NM_012295.4
p.P2160L
c.6479C>T
1 paper
NM_012295.4
p.S2126A
c.6376T>G
1 paper
NM_012295.4
p.R2123W
c.6367C>T
1 paper
NM_012295.4
p.E2081K
c.6241G>A
1 paper
NM_012295.4
p.R2073W
c.6217A>T
2 papers
NM_001201429.2
p.Q2018R
c.6053A>G
NM_012295.4
p.Q2068R
c.6203A>G
1 paper
NM_012295.4
p.G2061D
c.6182G>A
1 paper
NM_012295.4
p.E2031K
c.6091G>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."