Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.L950M

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.L950M
c.2848C>A
Surrounding Variants
1 paper
NM_012295.4
p.E965E
c.2895A>G
1 paper
NM_012295.4
p.Q969H
c.2907G>C
1 paper
NM_012295.4
p.Q969H
c.2907G>T
1 paper
NM_012295.4
p.A926P
c.2776G>C
1 paper
NM_012295.4
p.Q921E
c.2761C>G
1 paper
NM_012295.4
p.A978S
c.2932G>T
1 paper
NM_012295.4
p.S999S
c.2997C>T
1 paper
NM_012295.4
p.V1001M
c.3001G>A
1 paper
NM_012295.4
p.L1026P
c.3077T>C
1 paper
NM_012295.4
p.D1048H
c.3142G>C
1 paper
NM_012295.4
p.P1052S
c.3154C>T
1 paper
NM_012295.4
p.V1054A
c.3161T>C
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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."