Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.L67L

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
2 papers
NM_012295.4
p.L67L
c.201G>A
Surrounding Variants
1 paper
NM_012295.4
p.A56T
c.166G>A
1 paper
NM_012295.4
p.R51W
c.151C>T
1 paper
NM_012295.4
p.A43T
c.127G>A
1 paper
NM_012295.4
p.K42R
c.125A>G
1 paper
NM_012295.4
p.K42E
c.124A>G
1 paper
NM_012295.4
p.A36_F37del2
c.106_110del6
1 paper
NM_012295.4
p.A31S
c.91G>T
1 paper
NM_012295.4
p.K29*
c.85A>T
1 paper
NM_012295.4
p.S23G
c.67A>G
2 papers
NM_012295.4
p.D15E
c.45T>A
2 papers
NM_012295.4
p.D15E
c.45T>G
1 paper
NM_012295.4
p.T12_I13delFs
c.36_37delCA
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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."