Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1

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
1–12 of 259 variants
6 papers
NM_012295.4
p.L816F
c.2446C>T
4 papers
NM_012295.4
p.P840A
c.2518C>G
3 papers
NM_012295.4
p.S325R
c.973A>C
3 papers
NM_012295.4
p.S325R
c.975C>A
3 papers
NM_012295.4
p.S325R
c.975C>G
3 papers
NM_012295.4
p.R1243H
c.3728G>A
3 papers
NM_012295.4
p.S1695I
c.5084G>T
3 papers
NM_012295.4
p.D2212E
c.6636C>A
3 papers
NM_012295.4
p.D2212E
c.6636C>G
2 papers
NM_012295.4
p.D15E
c.45T>A
2 papers
NM_012295.4
p.D15E
c.45T>G
2 papers
NM_012295.4
p.L67L
c.201G>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."